Canonical Allele Identifier: CA2832429628
Gene: BRCA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43090944_43097290del , CM000679.2:g.43090944_43097290del GRCh38
NC_000017.10:g.41242961_41249307del , CM000679.1:g.41242961_41249307del GRCh37
NC_000017.9:g.38496487_38502833del NCBI36
NG_005905.2:g.120695_127041del , LRG_292:g.120695_127041del

Transcript Alleles

HGVS Amino-acid Change
ENST00000461574.2:c.548_4185+1del
ENST00000470026.6:c.548_4185+1del
ENST00000473961.6:c.545-2429_4059+1del
ENST00000476777.6:c.545_4182+1del
ENST00000477152.6:c.470_4107+1del
ENST00000478531.6:c.545_873+1del
ENST00000489037.2:c.470_4107+1del
ENST00000493919.6:c.407_735+1del
ENST00000494123.6:c.548_4185+1del
ENST00000497488.2:c.-218-2429_3297+1del
ENST00000618469.2:c.548_4185+1del
ENST00000634433.2:c.548-2429_4062+1del
ENST00000644379.2:c.548_4185+1del
ENST00000644555.2:c.407_735+1del
ENST00000652672.2:c.407_4044+1del
ENST00000484087.6:c.548-2429_753+1del
ENST00000700182.1:c.467_795+1del
ENST00000357654.9:c.548_4185+1del
ENST00000471181.7:c.548_4185+1del
ENST00000352993.7:c.548_759+1del
ENST00000357654.7:c.548_4185+1del
ENST00000461221.5:c.*331_*3968+1del
ENST00000468300.5:c.548_876+1del
ENST00000471181.6:c.548_4185+1del
ENST00000478531.5:c.545_873+1del
ENST00000484087.5:c.293-2429_498+1del
ENST00000487825.5:c.296-2429_501+1del
ENST00000491747.6:c.548_876+1del
ENST00000493795.5:c.407_4044+1del
ENST00000493919.5:c.407_735+1del
ENST00000586385.5:c.4+27893_5-26992del ENSP00000465818.1:n.4+27893_5-26992del
ENST00000591534.5:c.-43-22768_-43-16422del ENSP00000467329.1:n.-43-22768_-43-16422del
ENST00000591849.5:c.-99+27982_-99+34328del ENSP00000465347.1:n.-99+27982_-99+34328del
NM_007294.3:c.548_4185+1del , LRG_292t1:c.548_4185+1del
NM_007297.3:c.407_4044+1del
NM_007298.3:c.548_876+1del
NM_007299.3:c.548_876+1del
NM_007300.3:c.548_4185+1del
NR_027676.1:n.684_4321+1del
NM_007294.4:c.548_4185+1del
NM_007297.4:c.407_4044+1del
NM_007299.4:c.548_876+1del
NM_007300.4:c.548_4185+1del
NR_027676.2:n.725_4362+1del