Canonical Allele Identifier: CA16043353
Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 373841
ClinVar RCV Id: RCV000413276

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43102513_43107537del , CM000679.2:g.43102513_43107537del GRCh38
NC_000017.10:g.41254530_41259554del , CM000679.1:g.41254530_41259554del GRCh37
NC_000017.9:g.38508056_38513080del NCBI36
NG_005905.2:g.110447_115471del , LRG_292:g.110447_115471del

Transcript Alleles

HGVS Amino-acid Change
ENST00000354071.8:n.199-1004_505+1609del
ENST00000461574.2:c.135-1004_441+1609del
ENST00000470026.6:c.135-1004_441+1609del
ENST00000473961.6:c.135-1004_441+1609del
ENST00000476777.6:c.135-1004_441+1609del
ENST00000477152.6:c.135-2581_363+1609del
ENST00000478531.6:c.135-1004_441+1609del
ENST00000489037.2:c.135-2581_363+1609del
ENST00000493919.6:c.-7-1004_300+1609del
ENST00000494123.6:c.135-1004_441+1609del
ENST00000497488.2:c.-218-12677_-218-7653del ENSP00000418986.2:n.-218-12677_-218-7653del
ENST00000618469.2:c.135-1004_441+1609del
ENST00000634433.2:c.135-1004_441+1609del
ENST00000644379.2:c.135-1004_441+1609del
ENST00000644555.2:c.-7-1004_300+1609del
ENST00000652672.2:c.-7-1004_300+1609del
ENST00000484087.6:c.135-1004_441+1609del
ENST00000700182.1:c.135-2581_363+1609del
ENST00000700183.1:c.*71-1004_*355+1609del
ENST00000700184.1:n.378-1004_684+1609del
ENST00000357654.9:c.135-1004_441+1609del
ENST00000471181.7:c.135-1004_441+1609del
ENST00000642945.1:c.*9-1004_*315+1609del
ENST00000652672.1:c.-7-1004_300+1609del
ENST00000352993.7:c.135-1004_441+1609del
ENST00000354071.7:c.135-1004_441+1609del
ENST00000357654.7:c.135-1004_441+1609del
ENST00000461221.5:c.135-1004_*227+1609del
ENST00000461798.5:c.135-1004_*227+1609del
ENST00000468300.5:c.135-1004_441+1609del
ENST00000470026.5:c.135-1004_441+1609del
ENST00000471181.6:c.135-1004_441+1609del
ENST00000476777.5:c.135-1004_441+1609del
ENST00000477152.5:c.135-2581_363+1609del
ENST00000478531.5:c.135-1004_441+1609del
ENST00000491747.6:c.135-1004_441+1609del
ENST00000492859.5:c.*71-1004_*377+1609del
ENST00000493795.5:c.-7-1004_300+1609del
ENST00000493919.5:c.-7-1004_300+1609del
ENST00000494123.5:c.135-1004_441+1609del
ENST00000497488.1:c.-218-12677_-218-7653del ENSP00000418986.1:n.-218-12677_-218-7653del
ENST00000586385.5:c.4+17645_4+22669del ENSP00000465818.1:n.4+17645_4+22669del
ENST00000591534.5:c.-44+17734_-44+22758del ENSP00000467329.1:n.-44+17734_-44+22758del
ENST00000591849.5:c.-99+17734_-99+22758del ENSP00000465347.1:n.-99+17734_-99+22758del
ENST00000634433.1:c.135-1004_441+1609del
NM_007294.3:c.135-1004_441+1609del , LRG_292t1:c.135-1004_441+1609del
NM_007297.3:c.-7-1004_300+1609del
NM_007298.3:c.135-1004_441+1609del
NM_007299.3:c.135-1004_441+1609del
NM_007300.3:c.135-1004_441+1609del
NR_027676.1:n.296-1004_580+1609del
NM_007294.4:c.135-1004_441+1609del
NM_007297.4:c.-7-1004_300+1609del
NM_007299.4:c.135-1004_441+1609del
NM_007300.4:c.135-1004_441+1609del
NR_027676.2:n.337-1004_621+1609del