(used for variant description)
(last modified June 2, 2025)
This file was created to facilitate the description of sequence variants on transcript NM_006265.2 in the RAD21 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000008.10, covering RAD21 transcript NM_006265.2.
(upstream sequence)
. . . . g.5048
aggcgcacaggtaccattttgaccgtaaacatcctgccgatttgaacc c.-241
. . . . . . g.5108
gaggatttgggcggcaggaagagccgcggcgtaacggcagccatcttgtttgtttgagtg c.-181
. . . . . . g.5168
aatcggaaaggaggcgccggctgtggcggcggcgggagctgctcggaagctacacctcgc c.-121
. . . . . . g.5228
aagggctcccccctttccccaccccctcccccgacccttttcccctccccgggccaccca c.-61
. . . | 02. . . g.13137
gcccgcccaactcccagcggagagcaag | gttttcttctgttttcatagccagccagaaca c.-1
. . . . . . g.13197
ATGTTCTACGCACATTTTGTTCTCAGTAAAAGAGGGCCTCTGGCCAAAATTTGGCTAGCG c.60
M F Y A H F V L S K R G P L A K I W L A p.20
. . . . . . g.13257
GCCCATTGGGATAAGAAGCTAACCAAAGCCCATGTGTTCGAGTGTAATTTAGAGAGCAGC c.120
A H W D K K L T K A H V F E C N L E S S p.40
. . | 03 . . . . g.16643
GTGGAGAGTATCATCTCACCAAAG | GTGAAAATGGCATTACGGACATCAGGACATCTCTTA c.180
V E S I I S P K | V K M A L R T S G H L L p.60
. . . . . . g.16703
CTGGGAGTAGTTCGAATCTATCACAGGAAAGCCAAATACCTTCTTGCAGACTGTAATGAA c.240
L G V V R I Y H R K A K Y L L A D C N E p.80
. . . | 04 . . . g.17952
GCATTCATTAAGATAAAGATGGCTTTTCGGCCAG | GTGTGGTTGACCTGCCTGAGGAAAAT c.300
A F I K I K M A F R P G | V V D L P E E N p.100
. . . . . . g.18012
CGGGAAGCAGCTTATAATGCCATTACTTTACCTGAAGAATTTCATGACTTTGATCAGCCA c.360
R E A A Y N A I T L P E E F H D F D Q P p.120
. | 05 . . . . . g.21454
CTGCCTGACTTAGA | TGACATCGATGTGGCCCAGCAGTTCAGCTTGAATCAGAGTAGAGTG c.420
L P D L D | D I D V A Q Q F S L N Q S R V p.140
. . . . . . g.21514
GAAGAGATAACCATGAGAGAAGAAGTTGGGAACATCAGTATTTTACAAGAAAATGATTTT c.480
E E I T M R E E V G N I S I L Q E N D F p.160
| 06 . . . . . . g.22452
G | GTGATTTTGGAATGGATGATCGTGAGATAATGAGAGAAGGCAGTGCTTTTGAGGATGAC c.540
G | D F G M D D R E I M R E G S A F E D D p.180
. . . . . . g.22512
GACATGTTAGTAAGCACTACTACTTCTAACCTCCTATTAGAGTCTGAACAGAGCACCAGC c.600
D M L V S T T T S N L L L E S E Q S T S p.200
. . . . . . g.22572
AATCTGAATGAGAAAATTAACCATTTAGAATATGAAGATCAATATAAGGATGATAATTTT c.660
N L N E K I N H L E Y E D Q Y K D D N F p.220
. . | 07 . . . g.23127
GGAGAAGGAAATGATGGTGGAATATTAG | ATGACAAACTTATTAGTAATAATGATGGCGGT c.720
G E G N D G G I L D | D K L I S N N D G G p.240
. . . . . . g.23187
ATCTTTGATGATCCCCCTGCCCTCTCTGAGGCAGGGGTGATGTTGCCAGAGCAGCCTGCA c.780
I F D D P P A L S E A G V M L P E Q P A p.260
. . . | 08 . . . g.23604
CATGACGATATGGATGAGGATGATAATGTATCAA | TGGGTGGGCCTGATAGTCCTGATTCA c.840
H D D M D E D D N V S M | G G P D S P D S p.280
. . . . . . g.23664
GTGGATCCCGTTGAACCAATGCCAACCATGACTGATCAAACAACACTTGTTCCAAATGAG c.900
V D P V E P M P T M T D Q T T L V P N E p.300
. . . | 09. . . g.25421
GAAGAAGCATTTGCATTGGAGCCTATTGATATAACTG | TTAAAGAAACAAAAGCCAAGAGG c.960
E E A F A L E P I D I T V | K E T K A K R p.320
. . . . . . g.25481
AAGAGGAAGCTAATTGTTGACAGTGTCAAAGAGTTGGATAGCAAGACAATTAGAGCCCAA c.1020
K R K L I V D S V K E L D S K T I R A Q p.340
. . . . . . g.25541
CTTAGTGATTATTCAGATATTGTTACTACTTTGGATCTGGCACCGCCCACCAAGAAATTG c.1080
L S D Y S D I V T T L D L A P P T K K L p.360
. . . . . . g.25601
ATGATGTGGAAAGAGACAGGAGGAGTAGAAAAACTGTTTTCTTTACCTGCTCAGCCTTTG c.1140
M M W K E T G G V E K L F S L P A Q P L p.380
. . | 10 . . . . g.27197
TGGAATAACAGACTACTGAAG | CTCTTTACACGCTGTCTTACACCGCTTGTACCAGAAGAC c.1200
W N N R L L K | L F T R C L T P L V P E D p.400
. . . . . . g.27257
CTTAGAAAAAGGAGGAAAGGAGGAGAGGCAGATAATTTGGATGAATTCCTCAAAGAATTT c.1260
L R K R R K G G E A D N L D E F L K E F p.420
. . . . . . g.27317
GAAAATCCAGAGGTTCCTAGAGAGGACCAGCAACAGCAGCATCAGCAGCGTGATGTTATC c.1320
E N P E V P R E D Q Q Q Q H Q Q R D V I p.440
| 11 . . . . . . g.27829
G | ATGAGCCCATTATTGAAGAGCCAAGCCGCCTCCAGGAGTCAGTGATGGAGGCCAGCAGA c.1380
D | E P I I E E P S R L Q E S V M E A S R p.460
. . . . . . g.27889
ACAAACATAGATGAGTCAGCTATGCCTCCACCACCACCTCAGGGAGTTAAGCGAAAAGCT c.1440
T N I D E S A M P P P P P Q G V K R K A p.480
. . . | 12 . . . g.29129
GGACAAATTGACCCAGAGCCTGTGATGCCT | CCTCAGCAGGTAGAGCAGATGGAAATACCA c.1500
G Q I D P E P V M P | P Q Q V E Q M E I P p.500
. . . . . . g.29189
CCTGTAGAGCTTCCCCCAGAAGAACCTCCAAATATCTGTCAGCTAATACCAGAGTTAGAA c.1560
P V E L P P E E P P N I C Q L I P E L E p.520
. . . . . . g.29249
CTTCTGCCAGAAAAAGAGAAGGAGAAAGAGAAGGAAAAAGAAGATGATGAAGAGGAAGAG c.1620
L L P E K E K E K E K E K E D D E E E E p.540
| 13 . . . . . . g.30897
| GATGAAGATGCATCAGGGGGCGATCAAGATCAGGAAGAAAGAAGATGGAACAAAAGGACT c.1680
| D E D A S G G D Q D Q E E R R W N K R T p.560
. . | 14 . . . . g.32211
CAGCAGATGCTTCATGGTCTTCAG | CGTGCTCTTGCTAAAACTGGAGCTGAATCTATCAGT c.1740
Q Q M L H G L Q | R A L A K T G A E S I S p.580
. . . . . . g.32271
TTGCTTGAGTTATGTCGAAATACGAACAGAAAACAAGCTGCCGCAAAGTTCTACAGCTTC c.1800
L L E L C R N T N R K Q A A A K F Y S F p.600
. . . . . . g.32331
TTGGTTCTTAAAAAGCAGCAAGCTATTGAGCTGACACAGGAAGAACCGTACAGTGACATC c.1860
L V L K K Q Q A I E L T Q E E P Y S D I p.620
. . . g.32367
ATCGCAACACCTGGACCAAGGTTCCATATTATATAA c.1896
I A T P G P R F H I I X p.631
. . . . . . g.32427
ggagctagaagcattatagctagtgtttgattcactagtgcttacaaattgcccccatgt c.*60
. . . . . . g.32487
gtaggggacacagaaccctttgagaaaacttagatttttgtctgtacaaagtctttgcct c.*120
. . . . . . g.32547
ttttccttcttcatttttttccagtacattaaatttgtcaatttcatctttgagggaaac c.*180
. . . . . . g.32607
tgattagatgggttgtgtttgtgttctgatggagaaaacagcaccccaaggactcagaag c.*240
. . . . . . g.32667
atgattttaacagttcagaacagatgtgtgcaatattggtgcatgtaataatgttgagtg c.*300
. . . . . . g.32727
gcagtcaaaagtcatgatttttatcttagttcttcattactgcattgaaaaggaaaacct c.*360
. . . . . . g.32787
gtctgagaaaatgcctgacagtttaatttaaaactatggtgtaagtctttgacaagaaaa c.*420
. . . . . . g.32847
aaaaacaaacaaacacttctttccatcagtaacactggcaatcttcctgttaaccactct c.*480
. . . . . . g.32907
ccttagggatggtatctgaaacaacaatggtcaccctcttgagattcgttttaagtgtaa c.*540
. . . . . . g.32967
ttccataatgagcagaggtgtacgcgaaattgtgttatgactgatagccttcagctacaa c.*600
. . . . . . g.33027
aaagataggactgacctggtttaaagtgttctattttgtaaatcattccatttgagtctt c.*660
. . . . . . g.33087
tctgatgaacttggctatactgaaatctgttattttagtgaggctccaaaatgagcaaag c.*720
. . . . . . g.33147
ctaggcctgattagagtagagtgactattaaaaaacataactttctaggagctataaatc c.*780
. . . . . . g.33207
aaagttttaaaaagatgtttggatatatttgagtattccgatcatgaaaacagaaattgc c.*840
. . . . . . g.33267
cctgcctactacaaggacagactgatgggaaattatgcacctggtcaacttagcttttaa c.*900
. . . . . . g.33327
gcagacgatgctgtaaaaactaacggcttctctgatatttattgtaagttttagtactga c.*960
. . . . . . g.33387
tctccttttccagtgctgcacactcctggtttggaactttaatagcgttgcaacgaaatc c.*1020
. . . . . . g.33447
ctatatccagtttcctgtaatttaattgaagaaaaatacatccaaataaagactttatta c.*1080
. . . . . . g.33507
ttaacagaccagatagcatcagaaatcatgtgactgttatgattatcagaatgtcttaac c.*1140
. . . . . . g.33567
tttttagggcaaagttaacactgaaagttctagcttaagtgttgaaacttttgtgggaaa c.*1200
. . . . . . g.33627
aaaaaatcacttttgaaactcagacttcagtgtatacccaataatttaaaattatgtgaa c.*1260
. . . . . . g.33687
atgttttaaatttgtgaactcgtaattactgttttaatgattcagtttcttcagagtggt c.*1320
. . . . . . g.33747
aattgtataaaattgctattgcagctttacattcaatatgatgtgcctgtaaaccaagga c.*1380
. . . . . . g.33807
gttttccccgtttgtaaaaagacattgtagataattgaatgtttgattttagaaaggtca c.*1440
. . . . . . g.33867
ttagtttcttgttacacattttgttagtctggtttttgttgcttatcgggtttaatattg c.*1500
. . . . . . g.33927
ttcttgaaaatagttgatgctatgttatgtataacttttctaataaaagttgtgttataa c.*1560
g.33933
gctgta c.*1566
(downstream sequence)
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