(used for variant description)
(last modified July 31, 2019)
This file was created to facilitate the description of sequence variants on transcript NM_002913.4 in the RFC1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000004.11, covering RFC1 transcript NM_002913.4.
(upstream sequence)
. . g.5020
gtcatcaccgcgcgccactg c.-121
. . . . . . g.5080
tcttcgccttcttgcacttcgcgggagaagttgttggcgcgaatggatcctgagcctcga c.-61
. . . . . . g.5140
taacagattcctcaaccggcccacccgccagccagccagcgccttcatcctggggctgcg c.-1
| 02 . . . . . . g.19962
ATG | GACATTCGGAAATTCTTTGGAGTAATACCAAGTGGAAAGAAACTTGTAAGTGAAACA c.60
M | D I R K F F G V I P S G K K L V S E T p.20
. . . . . . g.20022
GTAAAGAAGAATGAGAAAACAAAGTCTGATGAAGAAACTTTAAAAGCAAAGAAAGGAATA c.120
V K K N E K T K S D E E T L K A K K G I p.40
. | 03 . . . . . g.25953
AAGGAAATCAAG | GTAAATAGCTCCCGTAAAGAGGATGACTTCAAACAAAAGCAACCAAGC c.180
K E I K | V N S S R K E D D F K Q K Q P S p.60
. . | 04 . . . g.28946
AAGAAAAAGAGGATCATCTATGATTCAG | ATTCAGAGTCAGAGGAGACGTTGCAGGTAAAA c.240
K K K R I I Y D S D | S E S E E T L Q V K p.80
. . . . . . g.29006
AATGCCAAAAAGCCACCAGAAAAACTGCCAGTATCTTCTAAACCTGGTAAAATTTCACGG c.300
N A K K P P E K L P V S S K P G K I S R p.100
. . . | 05 . . . g.43654
CAGGATCCTGTTACATACATTTCAGAAACAG | ATGAAGAAGATGACTTTATGTGTAAGAAG c.360
Q D P V T Y I S E T D | E E D D F M C K K p.120
. . . . . . g.43714
GCGGCCTCTAAATCAAAAGAGAATGGAAGATCTACAAATAGTCATCTTGGAACATCAAAC c.420
A A S K S K E N G R S T N S H L G T S N p.140
. . . . . . g.43774
ATGAAAAAGAATGAAGAAAACACTAAGACCAAGAATAAGCCTTTATCACCAATAAAACTT c.480
M K K N E E N T K T K N K P L S P I K L p.160
. . . . . . g.43834
ACACCCACATCAGTACTTGATTATTTTGGAACTGGAAGTGTCCAAAGATCTAATAAGAAG c.540
T P T S V L D Y F G T G S V Q R S N K K p.180
. . | 06 . . . . g.44777
ATGGTGGCAAGCAAAAGAAAAGAG | CTTTCACAAAATACAGATGAGTCTGGATTAAATGAT c.600
M V A S K R K E | L S Q N T D E S G L N D p.200
. . . . | 07 . . g.47982
GAAGCCATCGCCAAGCAATTACAGCTTGATGAAGATGCGGAG | CTGGAGAGGCAGTTGCAT c.660
E A I A K Q L Q L D E D A E | L E R Q L H p.220
. . . . . . g.48042
GAAGATGAAGAGTTTGCCAGAACATTAGCCATGTTGGATGAAGAACCCAAGACCAAAAAG c.720
E D E E F A R T L A M L D E E P K T K K p.240
| 08 . . . . . . g.50067
| GCTCGAAAGGACACAGAAGCGGGAGAAACGTTTTCATCTGTCCAAGCCAATTTAAGTAAA c.780
| A R K D T E A G E T F S S V Q A N L S K p.260
. . | 09 . . . g.50744
GCAGAAAAACATAAATATCCTCATAAAG | TAAAAACAGCACAAGTTTCAGATGAAAGAAAG c.840
A E K H K Y P H K V | K T A Q V S D E R K p.280
. . . . . . g.50804
AGCTACAGTCCTAGGAAGCAAAGTAAATATGAAAGTTCAAAAGAATCTCAGCAACATTCC c.900
S Y S P R K Q S K Y E S S K E S Q Q H S p.300
. . . . . . g.50864
AAGTCATCAGCTGACAAAATAGGAGAAGTCTCTTCTCCCAAGGCCAGTTCTAAGCTGGCA c.960
K S S A D K I G E V S S P K A S S K L A p.320
. . . . . . g.50924
ATTATGAAAAGAAAAGAAGAGAGCTCTTATAAAGAAATAGAGCCTGTGGCCTCAAAAAGA c.1020
I M K R K E E S S Y K E I E P V A S K R p.340
. . . . . . g.50984
AAAGAAAATGCCATTAAATTGAAAGGAGAGACAAAAACTCCTAAGAAAACCAAAAGTTCT c.1080
K E N A I K L K G E T K T P K K T K S S p.360
. | 10 . . . . . g.54404
CCAGCTAAAAAAGAG | TCTGTAAGTCCTGAAGATTCTGAAAAGAAACGCACTAATTATCAA c.1140
P A K K E | S V S P E D S E K K R T N Y Q p.380
. . . . . . g.54464
GCTTATCGAAGCTACTTAAATCGAGAAGGTCCCAAGGCTCTGGGCTCCAAAGAAATACCA c.1200
A Y R S Y L N R E G P K A L G S K E I P p.400
| 11 . . . . . . g.58507
AAG | GGAGCTGAAAATTGCTTGGAAGGCCTTATATTTGTAATCACAGGCGTGCTGGAGTCT c.1260
K | G A E N C L E G L I F V I T G V L E S p.420
. . . . . . g.58567
ATTGAACGAGATGAGGCCAAGTCTCTAATTGAACGTTATGGGGGAAAAGTAACAGGAAAT c.1320
I E R D E A K S L I E R Y G G K V T G N p.440
. . . . . . g.58627
GTCAGCAAGAAAACAAATTATCTTGTCATGGGTCGTGATAGTGGACAGTCCAAGAGTGAT c.1380
V S K K T N Y L V M G R D S G Q S K S D p.460
| 12 . . . . . . g.59889
AAG | GCCGCAGCCTTGGGGACAAAAATTATTGATGAAGATGGCCTGTTGAATCTGATTCGG c.1440
K | A A A L G T K I I D E D G L L N L I R p.480
. . . . | 13 . g.62361
ACTATGCCAGGCAAGAAATCCAAGTATGAAATAGCAGTTGAAACTGAG | ATGAAGAAAGAG c.1500
T M P G K K S K Y E I A V E T E | M K K E p.500
. . . . . . g.62421
TCCAAACTGGAGAGAACACCCCAAAAAAATGTCCAAGGAAAAAGAAAAATTAGTCCATCT c.1560
S K L E R T P Q K N V Q G K R K I S P S p.520
. . . . . . g.62481
AAAAAGGAATCAGAATCTAAAAAGAGCAGGCCGACTTCCAAAAGGGACAGTTTGGCAAAG c.1620
K K E S E S K K S R P T S K R D S L A K p.540
. . . . . . g.62541
ACAATAAAAAAGGAAACAGATGTGTTTTGGAAAAGCCTGGATTTCAAGGAGCAGGTGGCT c.1680
T I K K E T D V F W K S L D F K E Q V A p.560
. . . . . . g.62601
GAGGAGACAAGTGGTGACAGCAAGGCTAGGAATTTGGCTGATGACAGCAGTGAAAACAAA c.1740
E E T S G D S K A R N L A D D S S E N K p.580
. . . . . . g.62661
GTGGAAAATTTGCTCTGGGTGGATAAATATAAGCCAACCTCGCTCAAGACCATAATTGGA c.1800
V E N L L W V D K Y K P T S L K T I I G p.600
. . . . . . g.62721
CAGCAAGGTGACCAGAGCTGTGCCAACAAACTCCTACGCTGGCTCCGAAACTGGCAAAAG c.1860
Q Q G D Q S C A N K L L R W L R N W Q K p.620
. . | 14 . . . . g.64715
AGTTCTTCCGAAGATAAAAAACACG | CAAAGTTTGGTAAATTTTCCGGCAAAGATGATGGC c.1920
S S S E D K K H A | K F G K F S G K D D G p.640
. . . . . . g.64775
TCTAGTTTTAAAGCAGCGTTGCTGTCAGGCCCTCCTGGTGTTGGCAAAACCACCACAGCT c.1980
S S F K A A L L S G P P G V G K T T T A p.660
. | 15 . . . . . g.66498
TCCCTGGTGTGTCAG | GAGTTGGGATACAGCTACGTGGAACTGAATGCAAGTGACACCCGG c.2040
S L V C Q | E L G Y S Y V E L N A S D T R p.680
. . . . . . g.66558
AGTAAGAGCAGTTTGAAGGCGATTGTTGCTGAGTCACTGAACAATACCAGCATCAAAGGC c.2100
S K S S L K A I V A E S L N N T S I K G p.700
. | 16 . . . . . g.68280
TTTTATTCAA | ATGGAGCAGCCTCTTCAGTAAGCACGAAACATGCTCTCATCATGGATGAA c.2160
F Y S N | G A A S S V S T K H A L I M D E p.720
. . . . | 17 . . g.68525
GTAGATGGCATGGCAGGCAATGAGGATAGGGGAGGAATTCAG | GAATTAATTGGCCTGATA c.2220
V D G M A G N E D R G G I Q | E L I G L I p.740
. . . . . . g.68585
AAACATACTAAAATTCCCATTATTTGTATGTGCAATGATAGAAATCATCCCAAGATTCGC c.2280
K H T K I P I I C M C N D R N H P K I R p.760
. . . . . . g.68645
TCTCTGGTTCATTATTGTTTTGATCTTCGTTTTCAAAGACCTCGGGTTGAACAGATTAAG c.2340
S L V H Y C F D L R F Q R P R V E Q I K p.780
| 18 . . . . . . g.68846
| GGTGCTATGATGTCTATTGCATTTAAAGAAGGTTTAAAGATTCCCCCTCCAGCTATGAAT c.2400
| G A M M S I A F K E G L K I P P P A M N p.800
. . . | 19 . . . g.69029
GAAATAATTTTGGGAGCCAATCAAGATATCAGACAG | GTTTTACATAATCTGAGTATGTGG c.2460
E I I L G A N Q D I R Q | V L H N L S M W p.820
. . . . . . g.69089
TGTGCACGAAGTAAAGCATTAACCTATGACCAGGCCAAAGCTGATTCTCACAGAGCCAAA c.2520
C A R S K A L T Y D Q A K A D S H R A K p.840
. | 20 . . . . . g.71012
AAGGATATCAAAATG | GGCCCATTTGATGTTGCCCGGAAAGTGTTTGCAGCTGGAGAGGAG c.2580
K D I K M | G P F D V A R K V F A A G E E p.860
. . . . . . g.71072
ACTGCTCACATGTCACTTGTGGACAAGTCAGATCTCTTTTTTCATGATTATTCAATAGCA c.2640
T A H M S L V D K S D L F F H D Y S I A p.880
. . . . . | 21 . g.71253
CCCCTCTTCGTCCAGGAAAATTACATACACGTGAAGCCTGTAGCAGCAGG | GGGTGACATG c.2700
P L F V Q E N Y I H V K P V A A G | G D M p.900
. . . . . . g.71313
AAAAAGCACCTGATGCTTTTAAGCAGAGCAGCAGACAGCATATGCGATGGTGACCTAGTG c.2760
K K H L M L L S R A A D S I C D G D L V p.920
. . . . | 22 . g.75634
GACAGCCAGATCCGGAGTAAGCAAAACTGGAGTCTTCTGCCTGCGCAG | GCCATTTATGCC c.2820
D S Q I R S K Q N W S L L P A Q | A I Y A p.940
. . . . . . g.75694
AGTGTTCTTCCTGGAGAGTTGATGAGGGGGTACATGACCCAGTTTCCCACCTTCCCAAGC c.2880
S V L P G E L M R G Y M T Q F P T F P S p.960
. . . . . . g.75754
TGGCTGGGGAAGCACTCGTCTACAGGCAAACATGATCGTATTGTTCAGGACCTGGCCTTG c.2940
W L G K H S S T G K H D R I V Q D L A L p.980
. | 23 . . . . . g.79575
CATATGAGTCTCAG | AACTTACTCCAGCAAAAGGACTGTAAACATGGATTATCTGTCGCTT c.3000
H M S L R | T Y S S K R T V N M D Y L S L p.1000
. . . . . . g.79635
CTAAGGGATGCACTTGTACAGCCCTTGACCTCACAAGGAGTAGACGGAGTACAGGATGTT c.3060
L R D A L V Q P L T S Q G V D G V Q D V p.1020
. . . . . . g.79695
GTTGCACTTATGGACACATATTATTTGATGAAAGAAGACTTTGAGAATATCATGGAAATC c.3120
V A L M D T Y Y L M K E D F E N I M E I p.1040
. . . . | 24 . g.81354
AGCAGCTGGGGTGGCAAACCTAGTCCCTTTTCAAAGCTGGATCCCAAG | GTGAAAGCAGCC c.3180
S S W G G K P S P F S K L D P K | V K A A p.1060
. . . . . . g.81414
TTCACAAGAGCTTACAATAAGGAAGCCCACCTTACTCCATACTCACTTCAAGCTATAAAG c.3240
F T R A Y N K E A H L T P Y S L Q A I K p.1080
. . . . . . g.81474
GCATCTAGACACAGCACAAGCCCATCCCTGGATTCGGAATACAATGAAGAATTAAATGAA c.3300
A S R H S T S P S L D S E Y N E E L N E p.1100
. . . . . . g.81534
GATGACTCTCAATCTGATGAGAAAGACCAAGATGCTATAGAAACTGATGCCATGATCAAG c.3360
D D S Q S D E K D Q D A I E T D A M I K p.1120
| 25 . . . . . . g.82597
| AAAAAGACAAAATCTTCAAAGCCTTCAAAACCAGAAAAAGATAAGGAGCCCAGAAAAGGA c.3420
| K K T K S S K P S K P E K D K E P R K G p.1140
. . g.82621
AAAGGAAAAAGTTCGAAGAAATGA c.3444
K G K S S K K X p.1147
. . . . . . g.82681
aaccatttttcactagcgacagccactttttactctccctcctgaccagtccagctggtc c.*60
. . . . . . g.82741
tagagaaagccttgttttttcccagagcaaccatgttttagcataatgggatgacctggt c.*120
. . . . . . g.82801
gtcccattataaataaagggtggtatggctagaagggtatgagcagtaggcttatgtaca c.*180
. . . . . . g.82861
cctcttatagaggttgataggactgcttgggtcctccactgtcctctgtcaatctagtta c.*240
. . . . . . g.82921
gacgtgcttctgaatgactgtagaattggaactagaaactacacctgggctttggagtca c.*300
. . . . . . g.82981
gattttagttaacaataatgagcctgggagcagtagtactaaggcgtcttttgtaggctt c.*360
. . . . . . g.83041
aagaatttatcctaatggcctttataggaccaatgctgattttttttaaaggcagttcct c.*420
. . . . . . g.83101
attatgtggtgaaattttgtaaataaatgattatacaaaacagtcaccacctagaactgg c.*480
. . . . . . g.83161
gtattctttgtacattgtcagatatctttcaaagtataaattaggaataaaaatgttcca c.*540
. . . . . . g.83221
catgatatgtgtacaaattctttttaagattgtcatcttgtacagcaaaatattatgttg c.*600
. . . . . . g.83281
gtatattacttccttattaatttgcaaatgattggattaaaaaagctcactgtattcctt c.*660
. . . . . . g.83341
actaacctgttgtgtgaaacataacattggcagtcgaggagtcagaactcggattcccag c.*720
. . . . . . g.83401
cctcactccctctgtgtgtgttgaccacgtctctgctgtgaataggatttcatgcagtgg c.*780
. . . . . . g.83461
tctgttatggggctttgcagcgtggggggctgcagaagattctcagacattcttatcctt c.*840
. . . . . . g.83521
ctggagtctcaacccatcaggttcagaccagtaggaaccaggctgggtcaggctcttaat c.*900
. . . . . . g.83581
ttcactatggtgggggacaaaatgaacactggcttttgttcactttgcccctgagagatc c.*960
. . . . . . g.83641
tagtcctgtcctgtgatggcttccacaaaccctgttggaagtttgggttattcctataac c.*1020
. . . . . . g.83701
tgtatgtgttgagtggccgtgaggctatggacctagcctggaatttagatgtctagctat c.*1080
. . . . . . g.83761
tttttaatcttgttggtaaatgctcagaggtctgtgctacctctgtgaggtatatactaa c.*1140
. . . . . . g.83821
aatgaatgtaaaataaggatcgtattccctgctttaaggaactggtagtcttgtttgggt c.*1200
. . . . . . g.83881
gatgagacaaagttcttgagacatttaaactgtatttaccagtgtgaaaaatgtcattta c.*1260
. . . . . g.83933
tggagattaattcattatggaaataaaacattgcctaagcccttgcctgctg c.*1312
(downstream sequence)
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