(used for variant description)
(last modified July 2, 2019)
This file was created to facilitate the description of sequence variants on transcript NM_000465.2 in the BARD1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_012047.2, covering BARD1 transcript NM_000465.2.
(upstream sequence)
. g.5015
cctctggcggcccgc c.-121
. . . . . . g.5075
cgtcccagacgcgggaagagcttggccggtttcgagtcgctggcctgcagcttccctgtg c.-61
. . . . . . g.5135
gtttcccgaggcttccttgcttcccgctctgcgaggagcctttcatccgaaggcgggacg c.-1
. . . . . . g.5195
ATGCCGGATAATCGGCAGCCGAGGAACCGGCAGCCGAGGATCCGCTCCGGGAACGAGCCT c.60
M P D N R Q P R N R Q P R I R S G N E P p.20
. . . . . . g.5255
CGTTCCGCGCCCGCCATGGAACCGGATGGTCGCGGTGCCTGGGCCCACAGTCGCGCCGCG c.120
R S A P A M E P D G R G A W A H S R A A p.40
. . . | 02 . . g.17609
CTCGACCGCCTGGAGAAGCTGCTGCGCTGCTCGCGTTG | TACTAACATTCTGAGAGAGCCT c.180
L D R L E K L L R C S R C | T N I L R E P p.60
. . . | 03 . . . g.22284
GTGTGTTTAGGAGGATGTGAGCACATCTTCTGTAG | TAATTGTGTAAGTGACTGCATTGGA c.240
V C L G G C E H I F C S | N C V S D C I G p.80
. . . . . . g.22344
ACTGGATGTCCAGTGTGTTACACCCCGGCCTGGATACAAGACTTGAAGATAAATAGACAA c.300
T G C P V C Y T P A W I Q D L K I N R Q p.100
. . . . . . g.22404
CTGGACAGCATGATTCAACTTTGTAGTAAGCTTCGAAATTTGCTACATGACAATGAGCTG c.360
L D S M I Q L C S K L R N L L H D N E L p.120
| 04 . . . . . . g.33251
TCAG | ATTTGAAAGAAGATAAACCTAGGAAAAGTTTGTTTAATGATGCAGGAAACAAGAAG c.420
S D | L K E D K P R K S L F N D A G N K K p.140
. . . . . . g.33311
AATTCAATTAAAATGTGGTTTAGCCCTCGAAGTAAGAAAGTCAGATATGTTGTGAGTAAA c.480
N S I K M W F S P R S K K V R Y V V S K p.160
. . . . . . g.33371
GCTTCAGTGCAAACCCAGCCTGCAATAAAAAAAGATGCAAGTGCTCAGCAAGACTCATAT c.540
A S V Q T Q P A I K K D A S A Q Q D S Y p.180
. . . . . . g.33431
GAATTTGTTTCCCCAAGTCCTCCTGCAGATGTTTCTGAGAGGGCTAAAAAGGCTTCTGCA c.600
E F V S P S P P A D V S E R A K K A S A p.200
. . . . . . g.33491
AGATCTGGAAAAAAGCAAAAAAAGAAAACTTTAGCTGAAATCAACCAAAAATGGAATTTA c.660
R S G K K Q K K K T L A E I N Q K W N L p.220
. . . . . . g.33551
GAGGCAGAAAAAGAAGATGGTGAATTTGACTCCAAAGAGGAATCTAAGCAAAAGCTGGTA c.720
E A E K E D G E F D S K E E S K Q K L V p.240
. . . . . . g.33611
TCCTTCTGTAGCCAACCATCTGTTATCTCCAGTCCTCAGATAAATGGTGAAATAGACTTA c.780
S F C S Q P S V I S S P Q I N G E I D L p.260
. . . . . . g.33671
CTAGCAAGTGGCTCCTTGACAGAATCTGAATGTTTTGGAAGTTTAACTGAAGTCTCTTTA c.840
L A S G S L T E S E C F G S L T E V S L p.280
. . . . . . g.33731
CCATTGGCTGAGCAAATAGAGTCTCCAGACACTAAGAGCAGGAATGAAGTAGTGACTCCT c.900
P L A E Q I E S P D T K S R N E V V T P p.300
. . . . . . g.33791
GAGAAGGTCTGCAAAAATTATCTTACATCTAAGAAATCTTTGCCATTAGAAAATAATGGA c.960
E K V C K N Y L T S K K S L P L E N N G p.320
. . . . . . g.33851
AAACGTGGCCATCACAATAGACTTTCCAGTCCCATTTCTAAGAGATGTAGAACCAGCATT c.1020
K R G H H N R L S S P I S K R C R T S I p.340
. . . . . . g.33911
CTGAGCACCAGTGGAGATTTTGTTAAGCAAACGGTGCCCTCAGAAAATATACCATTGCCT c.1080
L S T S G D F V K Q T V P S E N I P L P p.360
. . . . . . g.33971
GAATGTTCTTCACCACCTTCATGCAAACGTAAAGTTGGTGGTACATCAGGGAGGAAAAAC c.1140
E C S S P P S C K R K V G G T S G R K N p.380
. . . . . . g.34031
AGTAACATGTCCGATGAATTCATTAGTCTTTCACCAGGTACACCACCTTCTACATTAAGT c.1200
S N M S D E F I S L S P G T P P S T L S p.400
. . . . . . g.34091
AGTTCAAGTTACAGGCGAGTGATGTCTAGTCCCTCAGCAATGAAGCTGTTGCCCAATATG c.1260
S S S Y R R V M S S P S A M K L L P N M p.420
. . . . . | 05 . g.45398
GCTGTGAAAAGAAATCATAGAGGAGAGACTTTGCTCCATATTGCTTCTATTAAG | GGCGAC c.1320
A V K R N H R G E T L L H I A S I K | G D p.440
. . . . . . g.45458
ATACCTTCTGTTGAATACCTTTTACAAAATGGAAGTGATCCAAATGTTAAAGACCATGCT c.1380
I P S V E Y L L Q N G S D P N V K D H A p.460
. | 06 . . . . . g.47095
GGATGGACACCATTG | CATGAAGCTTGCAATCATGGGCACCTGAAGGTAGTGGAATTATTG c.1440
G W T P L | H E A C N H G H L K V V E L L p.480
. . . . . . g.47155
CTCCAGCATAAGGCATTGGTGAACACCACCGGGTATCAAAATGACTCACCACTTCACGAT c.1500
L Q H K A L V N T T G Y Q N D S P L H D p.500
. . . . . . g.47215
GCAGCCAAGAATGGGCATGTGGATATAGTCAAGCTGTTACTTTCCTATGGAGCCTCCAGA c.1560
A A K N G H V D I V K L L L S Y G A S R p.520
| 07 . . . . . g.62201
AATGCTGT | TAATATATTTGGTCTGCGGCCTGTCGATTATACAGATGATGAAAGTATGAAA c.1620
N A V | N I F G L R P V D Y T D D E S M K p.540
. . . . . | 08. g.68853
TCGCTATTGCTGCTACCAGAGAAGAATGAATCATCCTCAGCTAGCCACTGCTCAGTA | ATG c.1680
S L L L L P E K N E S S S A S H C S V | M p.560
. . . . . . g.68913
AACACTGGGCAGCGTAGGGATGGACCTCTTGTACTTATAGGCAGTGGGCTGTCTTCAGAA c.1740
N T G Q R R D G P L V L I G S G L S S E p.580
. . . . . . g.68973
CAACAGAAAATGCTCAGTGAGCTTGCAGTAATTCTTAAGGCTAAAAAATATACTGAGTTT c.1800
Q Q K M L S E L A V I L K A K K Y T E F p.600
. | 09 . . . . . g.69595
GACAGTACAG | TAACTCATGTTGTTGTTCCTGGTGATGCAGTTCAAAGTACCTTGAAGTGT c.1860
D S T V | T H V V V P G D A V Q S T L K C p.620
. . . . | 10 . . g.84213
ATGCTTGGGATTCTCAATGGATGCTGGATTCTAAAATTTGAAT | GGGTAAAAGCATGTCTA c.1920
M L G I L N G C W I L K F E W | V K A C L p.640
. . . . . . g.84273
CGAAGAAAAGTATGTGAACAGGAAGAAAAGTATGAAATTCCTGAAGGTCCACGCAGAAGC c.1980
R R K V C E Q E E K Y E I P E G P R R S p.660
. . | 11 . . . . g.85735
AGGCTCAACAGAGAACAGCTG | TTGCCAAAGCTGTTTGATGGATGCTACTTCTATTTGTGG c.2040
R L N R E Q L | L P K L F D G C Y F Y L W p.680
. . . . . . g.85795
GGAACCTTCAAACACCATCCAAAGGACAACCTTATTAAGCTCGTCACTGCAGGTGGGGGC c.2100
G T F K H H P K D N L I K L V T A G G G p.700
. . . . . . g.85855
CAGATCCTCAGTAGAAAGCCCAAGCCAGACAGTGACGTGACTCAGACCATCAATACAGTC c.2160
Q I L S R K P K P D S D V T Q T I N T V p.720
. . . . . . g.85915
GCATACCATGCGAGACCCGATTCTGATCAGCGCTTCTGCACACAGTATATCATCTATGAA c.2220
A Y H A R P D S D Q R F C T Q Y I I Y E p.740
. . . . . . g.85975
GATTTGTGTAATTATCACCCAGAGAGGGTTCGGCAGGGCAAAGTCTGGAAGGCTCCTTCG c.2280
D L C N Y H P E R V R Q G K V W K A P S p.760
. . . . . g.86029
AGCTGGTTTATAGACTGTGTGATGTCCTTTGAGTTGCTTCCTCTTGACAGCTGA c.2334
S W F I D C V M S F E L L P L D S X p.777
. . . . . . g.86089
atattataccagatgaacatttcaaattgaatttgcacggtttgtgagagcccagtcatt c.*60
. . . . . . g.86149
gtactgtttttaatgttcacatttttacaaataggtagagtcattcatatttgtctttga c.*120
. g.86167
atcaaaaaaaaaaaaaaa c.*138
(downstream sequence)
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