(used for variant description)
(last modified April 2, 2021)
This file was created to facilitate the description of sequence variants on transcript NM_001923.4 in the DDB1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_032697.2, covering DDB1 transcript NM_001923.4.
(upstream sequence)
g.14388
ggtg c.-241
. . . . . . g.14448
cctccgggggcggggcctccttcggttggcggcctcgggcttcgggagtcctccaagagg c.-181
. . . . . . g.14508
ccaggtgaggccgtcccgtgatgccccgcgccccggccgctctggcctgcaacgtgtctc c.-121
. . . . . . g.14568
tggggcggaggcagcggcagtggagttcgctgcgcgctgttgggggccacctgtcttttc c.-61
. . . . . . g.14628
gcttgtgtccctctttctagtgtcgcgctcgagtcccgacgggccgctccaagcctcgac c.-1
. . . . . . g.14688
ATGTCGTACAACTACGTGGTAACGGCCCAGAAGCCCACCGCCGTGAACGGCTGCGTGACC c.60
M S Y N Y V V T A Q K P T A V N G C V T p.20
| 02 . . . . . . g.15964
G | GACACTTTACTTCGGCCGAAGACTTAAACCTGTTGATTGCCAAAAACACGAGATTAGAG c.120
G | H F T S A E D L N L L I A K N T R L E p.40
. . . . . . g.16024
ATCTATGTGGTCACCGCCGAGGGGCTTCGGCCCGTCAAAGAGGTGGGCATGTATGGGAAG c.180
I Y V V T A E G L R P V K E V G M Y G K p.60
. . . | 03 . . . g.17552
ATTGCGGTCATGGAGCTTTTCAGGCCCAAG | GGGGAGAGCAAGGACCTGCTGTTTATCTTG c.240
I A V M E L F R P K | G E S K D L L F I L p.80
. . . . . . g.17612
ACAGCGAAGTACAATGCCTGCATCCTGGAGTATAAACAGAGTGGCGAGAGCATTGACATC c.300
T A K Y N A C I L E Y K Q S G E S I D I p.100
. . | 04. . . . g.18045
ATTACGCGAGCCCATGGCAATGTCCAG | GACCGCATTGGCCGCCCCTCAGAGACCGGCATT c.360
I T R A H G N V Q | D R I G R P S E T G I p.120
. . . . . . g.18105
ATTGGCATCATTGACCCTGAGTGCCGGATGATTGGCCTGCGTCTCTATGATGGCCTTTTC c.420
I G I I D P E C R M I G L R L Y D G L F p.140
. . . . . . g.18165
AAGGTTATTCCACTAGATCGCGATAATAAAGAACTCAAGGCCTTCAACATCCGCCTGGAG c.480
K V I P L D R D N K E L K A F N I R L E p.160
. . . . . . g.18225
GAGCTGCATGTCATTGATGTCAAGTTCCTATATGGTTGCCAAGCACCTACTATTTGCTTT c.540
E L H V I D V K F L Y G C Q A P T I C F p.180
| 05 . . . . . g.20754
GTCTACCAG | GACCCTCAGGGGCGGCACGTAAAAACCTATGAGGTGTCTCTCCGAGAAAAG c.600
V Y Q | D P Q G R H V K T Y E V S L R E K p.200
. . . . . . g.20814
GAATTCAATAAGGGCCCTTGGAAACAGGAAAATGTCGAAGCTGAAGCTTCCATGGTGATC c.660
E F N K G P W K Q E N V E A E A S M V I p.220
| 06 . . . . . . g.21944
GCAG | TCCCAGAGCCCTTTGGGGGGGCCATCATCATTGGACAGGAGTCAATCACCTATCAC c.720
A V | P E P F G G A I I I G Q E S I T Y H p.240
. . . . | 07 . . g.23477
AATGGTGACAAATACCTGGCTATTGCCCCTCCTATCATCAAG | CAAAGCACGATTGTGTGC c.780
N G D K Y L A I A P P I I K | Q S T I V C p.260
. . . . . . g.23537
CACAATCGAGTGGACCCTAATGGCTCAAGATACCTGCTGGGAGACATGGAAGGCCGGCTC c.840
H N R V D P N G S R Y L L G D M E G R L p.280
. . . . . . g.23597
TTCATGCTGCTTTTGGAGAAGGAGGAACAGATGGATGGCACCGTCACTCTCAAGGATCTC c.900
F M L L L E K E E Q M D G T V T L K D L p.300
. . | 08 . . . . g.24541
CGTGTAGAACTCCTTGGAGAG | ACCTCTATTGCTGAGTGCTTGACATACCTTGATAATGGT c.960
R V E L L G E | T S I A E C L T Y L D N G p.320
. . . . | 09 . . g.25199
GTTGTGTTTGTCGGGTCTCGCCTGGGTGACTCCCAGCTTGTGAAG | CTCAACGTTGACAGT c.1020
V V F V G S R L G D S Q L V K | L N V D S p.340
. . . . . . g.25259
AATGAACAAGGCTCCTATGTAGTGGCCATGGAAACCTTTACCAACTTAGGACCCATTGTC c.1080
N E Q G S Y V V A M E T F T N L G P I V p.360
. . . . | 10 . . g.25917
GATATGTGCGTGGTGGACCTGGAGAGGCAGGGGCAGGGGCAG | CTGGTCACTTGCTCTGGG c.1140
D M C V V D L E R Q G Q G Q | L V T C S G p.380
. . . . . . g.25977
GCTTTCAAGGAAGGTTCTTTGCGGATCATCCGGAATGGAATTGGAATCCACGAGCATGCC c.1200
A F K E G S L R I I R N G I G I H E H A p.400
. . | 11 . . . . g.31064
AGCATTGACTTACCAGGCATCAAAG | GATTATGGCCACTGCGGTCTGACCCTAATCGTGAG c.1260
S I D L P G I K G | L W P L R S D P N R E p.420
. . . . | 12 . . g.31222
ACTGATGACACTTTGGTGCTCTCTTTTGTGGGCCAGACAAG | AGTTCTCATGTTAAATGGA c.1320
T D D T L V L S F V G Q T R | V L M L N G p.440
. . . . . . g.31282
GAGGAGGTAGAAGAAACCGAACTGATGGGTTTCGTGGATGATCAGCAGACTTTCTTCTGT c.1380
E E V E E T E L M G F V D D Q Q T F F C p.460
. . . | 13 . . . g.33140
GGCAACGTGGCTCATCAGCAGCTTATCCAG | ATCACTTCAGCATCGGTGAGGTTGGTCTCT c.1440
G N V A H Q Q L I Q | I T S A S V R L V S p.480
. . . . . . g.33200
CAAGAACCCAAAGCTCTGGTCAGTGAATGGAAGGAGCCTCAGGCCAAGAACATCAGTGTG c.1500
Q E P K A L V S E W K E P Q A K N I S V p.500
. . . . . . g.33260
GCCTCCTGCAATAGCAGCCAGGTGGTGGTGGCTGTAGGCAGGGCCCTCTACTATCTGCAG c.1560
A S C N S S Q V V V A V G R A L Y Y L Q p.520
. . | 14 . . . g.33417
ATCCATCCTCAGGAGCTCCGGCAGATCAG | CCACACAGAGATGGAACATGAAGTGGCTTGC c.1620
I H P Q E L R Q I S | H T E M E H E V A C p.540
. . . . . . g.33477
TTGGACATCACCCCATTAGGAGACAGCAATGGACTGTCCCCTCTTTGTGCCATTGGCCTC c.1680
L D I T P L G D S N G L S P L C A I G L p.560
. . . . . . g.33537
TGGACGGACATCTCGGCTCGTATCTTGAAGTTGCCCTCTTTTGAACTACTGCACAAGGAG c.1740
W T D I S A R I L K L P S F E L L H K E p.580
. | 15 . . . . . g.33674
ATGCTGGGTGGAG | AGATCATTCCTCGCTCCATCCTGATGACCACCTTTGAGAGTAGCCAT c.1800
M L G G E | I I P R S I L M T T F E S S H p.600
. . . . . . g.33734
TACCTCCTTTGTGCCTTGGGAGATGGAGCGCTTTTCTACTTTGGGCTCAACATTGAGACA c.1860
Y L L C A L G D G A L F Y F G L N I E T p.620
| 16 . . . . . . g.33949
G | GTCTGTTGAGCGACCGTAAGAAGGTGACTTTGGGCACCCAGCCCACCGTATTGAGGACT c.1920
G | L L S D R K K V T L G T Q P T V L R T p.640
. . . . . . g.34009
TTTCGTTCTCTTTCTACCACCAACGTCTTTGCTTGTTCTGACCGCCCCACTGTCATCTAT c.1980
F R S L S T T N V F A C S D R P T V I Y p.660
. . . . . . g.34069
AGCAGCAACCACAAATTGGTCTTCTCAAATGTCAACCTCAAGGAAGTGAACTACATGTGT c.2040
S S N H K L V F S N V N L K E V N Y M C p.680
. . | 17 . . . g.35543
CCCCTCAATTCAGATGGCTATCCTGACAG | CCTGGCGCTGGCCAACAATAGCACCCTCACC c.2100
P L N S D G Y P D S | L A L A N N S T L T p.700
. . . . . . g.35603
ATTGGCACCATCGATGAGATCCAGAAGCTGCACATTCGCACAGTTCCCCTCTATGAGTCT c.2160
I G T I D E I Q K L H I R T V P L Y E S p.720
| 18 . . . . . . g.35756
CCAAG | GAAGATCTGCTACCAGGAAGTGTCCCAGTGTTTCGGGGTCCTCTCCAGCCGCATT c.2220
P R | K I C Y Q E V S Q C F G V L S S R I p.740
. . . . . | 19. g.37181
GAAGTCCAAGACACGAGTGGGGGCACGACAGCCTTGAGGCCCAGCGCTAGCACCCAG | GCT c.2280
E V Q D T S G G T T A L R P S A S T Q | A p.760
. . . . . . g.37241
CTGTCCAGCAGTGTAAGCTCCAGCAAGCTGTTCTCCAGCAGCACTGCTCCTCATGAGACC c.2340
L S S S V S S S K L F S S S T A P H E T p.780
. . . . . . g.37301
TCCTTTGGAGAAGAGGTGGAGGTGCACAACCTACTTATCATTGACCAACACACCTTTGAA c.2400
S F G E E V E V H N L L I I D Q H T F E p.800
| 20 . . . . . . g.37695
G | TGCTTCATGCCCACCAGTTTCTGCAGAATGAATATGCCCTCAGTCTGGTTTCCTGCAAG c.2460
V | L H A H Q F L Q N E Y A L S L V S C K p.820
. . . . . . g.37755
CTGGGCAAAGACCCCAACACTTACTTCATTGTGGGCACAGCAATGGTGTATCCTGAAGAG c.2520
L G K D P N T Y F I V G T A M V Y P E E p.840
. . . . | 21 . . g.38533
GCAGAGCCCAAGCAGGGTCGCATTGTGGTCTTTCAGTATTCGGATG | GAAAACTACAGACT c.2580
A E P K Q G R I V V F Q Y S D G | K L Q T p.860
. . . . . . g.38593
GTGGCTGAAAAGGAAGTGAAAGGGGCCGTGTACTCTATGGTGGAATTTAACGGGAAGCTG c.2640
V A E K E V K G A V Y S M V E F N G K L p.880
. . | 22 . . . . g.43600
TTAGCCAGCATCAATAGCACG | GTGCGGCTCTATGAGTGGACAACAGAGAAGGAGCTGCGC c.2700
L A S I N S T | V R L Y E W T T E K E L R p.900
. . . . . . g.43660
ACTGAGTGCAACCACTACAACAACATCATGGCCCTCTACCTGAAGACCAAGGGCGACTTC c.2760
T E C N H Y N N I M A L Y L K T K G D F p.920
. . . . . . g.43720
ATCCTGGTGGGCGACCTTATGCGCTCAGTGCTGCTGCTTGCCTACAAGCCCATGGAAGGA c.2820
I L V G D L M R S V L L L A Y K P M E G p.940
. | 23 . . . . . g.44489
AACTTTGAAGAG | ATTGCTCGAGACTTTAATCCCAACTGGATGAGTGCTGTGGAAATCTTG c.2880
N F E E | I A R D F N P N W M S A V E I L p.960
. . . . . . g.44549
GATGATGACAATTTTCTGGGGGCTGAAAATGCCTTTAACTTGTTTGTGTGTCAAAAGGAT c.2940
D D D N F L G A E N A F N L F V C Q K D p.980
| 24 . . . . . . g.44903
AG | CGCTGCCACCACTGACGAGGAGCGGCAGCACCTCCAGGAGGTTGGTCTTTTCCACCTG c.3000
S | A A T T D E E R Q H L Q E V G L F H L p.1000
. . . . . . g.44963
GGCGAGTTTGTCAATGTCTTTTGCCACGGCTCTCTGGTAATGCAGAATCTGGGTGAGACT c.3060
G E F V N V F C H G S L V M Q N L G E T p.1020
. . . . . | 25 . g.45245
TCCACCCCCACACAAGGCTCGGTGCTCTTCGGCACGGTCAACGGCATGATAG | GGCTGGTG c.3120
S T P T Q G S V L F G T V N G M I G | L V p.1040
. . . . . . g.45305
ACCTCACTGTCAGAGAGCTGGTACAACCTCCTGCTGGACATGCAGAATCGACTCAATAAA c.3180
T S L S E S W Y N L L L D M Q N R L N K p.1060
. . . | 26 . . . g.46689
GTCATCAAAAGTGTGGGGAAGATCGAGCACTCCTT | CTGGAGATCCTTTCACACCGAGCGG c.3240
V I K S V G K I E H S F | W R S F H T E R p.1080
. . . . . . g.46749
AAGACAGAACCAGCCACAGGTTTCATCGACGGTGACTTGATTGAGAGTTTCCTGGATATT c.3300
K T E P A T G F I D G D L I E S F L D I p.1100
. . . | 27 . . g.47398
AGCCGCCCCAAGATGCAGGAGGTGGTGGCAAACCTACAG | TATGACGATGGCAGCGGTATG c.3360
S R P K M Q E V V A N L Q | Y D D G S G M p.1120
. . . . . . g.47458
AAGCGAGAGGCCACTGCAGACGACCTCATCAAGGTTGTGGAGGAGCTAACTCGGATCCAT c.3420
K R E A T A D D L I K V V E E L T R I H p.1140
g.47461
TAG c.3423
X p.1140
. . . . . . g.47521
ccaagggcagggggcccctttgctgaccctccccaaaggctttgccctgctgccctcccc c.*60
. . . . . . g.47581
ctcctctccaccatcgtcttcttggccatgggaggcctttccctaagccagctgccccca c.*120
. . . . . . g.47641
gagccacagttcccctatgtggaagtggggcgggcttcatagagacttgggaatgagctg c.*180
. . . . . . g.47701
aaggtgaaacattttctccctggatttttaccagtctcacatgattccagccatcacctt c.*240
. . . . . . g.47761
agaccaccaagccttgattggtgttgccagttgtcctccttccggggaaggattttgcag c.*300
. . . . . . g.47821
ttctttggctgaaaggaagctgtgcgtgtgtgtgtgtgtatgtgtgtgtgtgtatgtgta c.*360
. . . . . . g.47881
tctcacactcatgcattgtcctctttttatttagattggcagtgtagggagttgtgggta c.*420
. . . . . . g.47941
gtggggaagagggttaggagggtttcattgtctgtgaagtgagaccttccttttactttt c.*480
. . . . . . g.48001
cttctattgcctctgagagcatcaggcctagaggcctgactgccaagccatgggtagcct c.*540
. . . . . . g.48061
gggtgtaaaacctggagatggtggatgatccccacgccacagcccttttgtctctgcaaa c.*600
. . . . . . g.48121
ctgccttcttcggaaagaagaaggtgggaggatgtgaattgttagtttctgagttttacc c.*660
. . g.48150
aaataaagtagaatataagaagaaaggta c.*689
(downstream sequence)
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