Canonical Allele Identifier: CA2809539730
Gene: BRCA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43049309_43049310del , CM000679.2:g.43049309_43049310del GRCh38
NC_000017.10:g.41201326_41201327del , CM000679.1:g.41201326_41201327del GRCh37
NC_000017.9:g.38454852_38454853del NCBI36
NG_005905.2:g.168675_168676del , LRG_292:g.168675_168676del

Transcript Alleles

HGVS Amino-acid Change
ENST00000461574.2:c.5330-115_5330-114del ENSP00000417241.2:n.5330-115_5330-114del
ENST00000470026.6:c.5333-115_5333-114del ENSP00000419274.2:n.5333-115_5333-114del
ENST00000473961.6:c.5207-115_5207-114del ENSP00000420201.2:n.5207-115_5207-114del
ENST00000476777.6:c.5327-115_5327-114del ENSP00000417554.2:n.5327-115_5327-114del
ENST00000477152.6:c.5255-115_5255-114del ENSP00000419988.2:n.5255-115_5255-114del
ENST00000478531.6:c.2021-115_2021-114del ENSP00000420412.2:n.2021-115_2021-114del
ENST00000489037.2:c.5255-115_5255-114del ENSP00000420781.2:n.5255-115_5255-114del
ENST00000493919.6:c.1883-115_1883-114del ENSP00000418819.2:n.1883-115_1883-114del
ENST00000494123.6:c.5333-115_5333-114del ENSP00000419103.2:n.5333-115_5333-114del
ENST00000497488.2:c.4445-115_4445-114del ENSP00000418986.2:n.4445-115_4445-114del
ENST00000618469.2:c.5333-115_5333-114del ENSP00000478114.2:n.5333-115_5333-114del
ENST00000634433.2:c.5210-115_5210-114del ENSP00000489431.2:n.5210-115_5210-114del
ENST00000644379.2:c.5399-115_5399-114del ENSP00000496570.2:n.5399-115_5399-114del
ENST00000644555.2:c.1883-115_1883-114del ENSP00000494614.2:n.1883-115_1883-114del
ENST00000652672.2:c.5192-115_5192-114del ENSP00000498906.2:n.5192-115_5192-114del
ENST00000484087.6:c.1895-115_1895-114del ENSP00000419481.2:n.1895-115_1895-114del
ENST00000700081.1:n.1101_1102del
ENST00000357654.9:c.5333-115_5333-114del MANE Select ENSP00000350283.3:n.5333-115_5333-114del
ENST00000471181.7:c.5396-115_5396-114del ENSP00000418960.2:n.5396-115_5396-114del
ENST00000644379.1:c.1720-115_1720-114del
ENST00000352993.7:c.1907-115_1907-114del ENSP00000312236.5:n.1907-115_1907-114del
ENST00000357654.7:c.5333-115_5333-114del ENSP00000350283.3:n.5333-115_5333-114del
ENST00000461221.5:c.*5116-115_*5116-114del ENSP00000418548.1:n.*5116-115_*5116-114del
ENST00000468300.5:c.2021-1606_2021-1605del ENSP00000417148.1:n.2021-1606_2021-1605del
ENST00000471181.6:c.5396-115_5396-114del ENSP00000418960.2:n.5396-115_5396-114del
ENST00000491747.6:c.2021-115_2021-114del ENSP00000420705.2:n.2021-115_2021-114del
ENST00000493795.5:c.5192-115_5192-114del ENSP00000418775.1:n.5192-115_5192-114del
ENST00000586385.5:c.263-115_263-114del ENSP00000465818.1:n.263-115_263-114del
ENST00000591534.5:c.806-115_806-114del ENSP00000467329.1:n.806-115_806-114del
ENST00000591849.5:c.32-115_32-114del ENSP00000465347.1:n.32-115_32-114del
NM_007294.3:c.5333-115_5333-114del , LRG_292t1:c.5333-115_5333-114del NP_009225.1:n.5333-115_5333-114del
NM_007297.3:c.5192-115_5192-114del NP_009228.2:n.5192-115_5192-114del
NM_007298.3:c.2021-115_2021-114del NP_009229.2:n.2021-115_2021-114del
NM_007299.3:c.2021-1606_2021-1605del NP_009230.2:n.2021-1606_2021-1605del
NM_007300.3:c.5396-115_5396-114del NP_009231.2:n.5396-115_5396-114del
NR_027676.1:n.5469-115_5469-114del
NM_007294.4:c.5333-115_5333-114del MANE Select NP_009225.1:n.5333-115_5333-114del
NM_007297.4:c.5192-115_5192-114del NP_009228.2:n.5192-115_5192-114del
NM_007299.4:c.2021-1606_2021-1605del NP_009230.2:n.2021-1606_2021-1605del
NM_007300.4:c.5396-115_5396-114del NP_009231.2:n.5396-115_5396-114del
NR_027676.2:n.5510-115_5510-114del