Canonical Allele Identifier: CA2499224634

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 1049567
• ClinVar RCV Id: RCV001355842 ; RCV001357661
• dbSNP Id: rs2154576469

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43124015_43124097del , CM000679.2:g.43124015_43124097del	GRCh38
NC_000017.10:g.41276032_41276114del , CM000679.1:g.41276032_41276114del	GRCh37
NC_000017.9:g.38529558_38529640del	NCBI36
NG_005905.2:g.93889_93971del , LRG_292:g.93889_93971del

Transcript Alleles

HGVS	Amino-acid change
ENST00000354071.8:n.66_144+4del
ENST00000461574.2:c.2_80+4del
ENST00000470026.6:c.2_80+4del
ENST00000473961.6:c.2_80+4del
ENST00000476777.6:c.2_80+4del
ENST00000477152.6:c.2_80+4del
ENST00000478531.6:c.2_80+4del
ENST00000489037.2:c.2_80+4del
ENST00000493919.6:c.-86_-8+4del
ENST00000494123.6:c.2_80+4del
ENST00000497488.2:c.-219+1176_-219+1258del	ENSP00000418986.2:n.-219+1176_-219+1258de...
ENST00000618469.2:c.2_80+4del
ENST00000634433.2:c.2_80+4del
ENST00000644379.2:c.2_80+4del
ENST00000644555.2:c.-285_-207+4del
ENST00000652672.2:c.-259_-181+4del
ENST00000484087.6:c.2_80+4del
ENST00000700182.1:c.2_80+4del
ENST00000700183.1:c.2_80+4del
ENST00000700184.1:n.245_323+4del
ENST00000700185.1:n.121_199+4del
ENST00000700186.1:n.121_199+4del
ENST00000357654.9:c.2_80+4del
ENST00000471181.7:c.2_80+4del
ENST00000642945.1:c.2_80+4del
ENST00000644555.1:c.-285_-207+4del
ENST00000652672.1:c.-259_-181+4del
ENST00000352993.7:c.2_80+4del
ENST00000354071.7:c.2_80+4del
ENST00000357654.7:c.2_80+4del
ENST00000461221.5:c.2_80+4del
ENST00000461798.5:c.2_80+4del
ENST00000468300.5:c.2_80+4del
ENST00000470026.5:c.2_80+4del
ENST00000471181.6:c.2_80+4del
ENST00000476777.5:c.2_80+4del
ENST00000477152.5:c.2_80+4del
ENST00000478531.5:c.2_80+4del
ENST00000489037.1:c.2_80+4del
ENST00000491747.6:c.2_80+4del
ENST00000492859.5:c.2_80+4del
ENST00000493795.5:c.-86_-8+4del
ENST00000493919.5:c.-86_-8+4del
ENST00000494123.5:c.2_80+4del
ENST00000497488.1:c.-219+1176_-219+1258del	ENSP00000418986.1:n.-219+1176_-219+1258de...
ENST00000586385.5:c.4+1087_4+1169del	ENSP00000465818.1:n.4+1087_4+1169del
ENST00000591534.5:c.-44+1176_-44+1258del	ENSP00000467329.1:n.-44+1176_-44+1258del
ENST00000591849.5:c.-99+1176_-99+1258del	ENSP00000465347.1:n.-99+1176_-99+1258del
ENST00000634433.1:c.2_80+4del
NM_007294.3:c.2_80+4del , LRG_292t1:c.2_80+4del
NM_007297.3:c.-86_-8+4del
NM_007298.3:c.2_80+4del
NM_007299.3:c.2_80+4del
NM_007300.3:c.2_80+4del
NR_027676.1:n.163_241+4del
NM_007294.4:c.2_80+4del
NM_007297.4:c.-86_-8+4del
NM_007299.4:c.2_80+4del
NM_007300.4:c.2_80+4del
NR_027676.2:n.204_282+4del