Canonical Allele Identifier: CA2499224437
Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1049707
ClinVar RCV Id: RCV001356164

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43090942_43094828del , CM000679.2:g.43090942_43094828del GRCh38
NC_000017.10:g.41242959_41246845del , CM000679.1:g.41242959_41246845del GRCh37
NC_000017.9:g.38496485_38500371del NCBI36
NG_005905.2:g.123158_127044del , LRG_292:g.123158_127044del

Transcript Alleles

HGVS Amino-acid change
ENST00000461574.2:c.705_4185+4del
ENST00000470026.6:c.705_4185+4del
ENST00000473961.6:c.579_4059+4del
ENST00000476777.6:c.702_4182+4del
ENST00000477152.6:c.627_4107+4del
ENST00000478531.6:c.702_873+4del
ENST00000489037.2:c.627_4107+4del
ENST00000493919.6:c.564_735+4del
ENST00000494123.6:c.705_4185+4del
ENST00000497488.2:c.-184_3297+4del
ENST00000618469.2:c.705_4185+4del
ENST00000634433.2:c.582_4062+4del
ENST00000644379.2:c.705_4185+4del
ENST00000644555.2:c.564_735+4del
ENST00000652672.2:c.564_4044+4del
ENST00000484087.6:c.582_753+4del
ENST00000700182.1:c.624_795+4del
ENST00000357654.9:c.705_4185+4del
ENST00000471181.7:c.705_4185+4del
ENST00000352993.7:c.670+1020_759+4del
ENST00000357654.7:c.705_4185+4del
ENST00000461221.5:c.*488_*3968+4del
ENST00000468300.5:c.705_876+4del
ENST00000471181.6:c.705_4185+4del
ENST00000478531.5:c.702_873+4del
ENST00000484087.5:c.327_498+4del
ENST00000487825.5:c.330_501+4del
ENST00000491747.6:c.705_876+4del
ENST00000493795.5:c.564_4044+4del
ENST00000493919.5:c.564_735+4del
ENST00000586385.5:c.4+30356_5-26989del ENSP00000465818.1:n.4+30356_5-26989del
ENST00000591534.5:c.-43-20305_-43-16419del ENSP00000467329.1:n.-43-20305_-43-16419de...
ENST00000591849.5:c.-99+30445_-99+34331del ENSP00000465347.1:n.-99+30445_-99+34331de...
NM_007294.3:c.705_4185+4del , LRG_292t1:c.705_4185+4del
NM_007297.3:c.564_4044+4del
NM_007298.3:c.705_876+4del
NM_007299.3:c.705_876+4del
NM_007300.3:c.705_4185+4del
NR_027676.1:n.841_4321+4del
NM_007294.4:c.705_4185+4del
NM_007297.4:c.564_4044+4del
NM_007299.4:c.705_876+4del
NM_007300.4:c.705_4185+4del
NR_027676.2:n.882_4362+4del