Canonical Allele Identifier: CA919844165

Gene: BRCA1

Linked Data

• dbSNP Id: rs1567757837

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43047656del , CM000679.2:g.43047656del	GRCh38
NC_000017.10:g.41199673del , CM000679.1:g.41199673del	GRCh37
NC_000017.9:g.38453199del	NCBI36
NG_005905.2:g.170328del , LRG_292:g.170328del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5451del	ENSP00000417241.2:p.Asp1817GlufsTer16
ENST00000470026.6:c.5454del	ENSP00000419274.2:p.Asp1818GlufsTer16
ENST00000473961.6:c.5328del	ENSP00000420201.2:p.Asp1776GlufsTer16
ENST00000476777.6:c.5448del	ENSP00000417554.2:p.Asp1816GlufsTer16
ENST00000477152.6:c.5376del	ENSP00000419988.2:p.Asp1792GlufsTer16
ENST00000478531.6:c.2142del	ENSP00000420412.2:p.Asp714GlufsTer16
ENST00000489037.2:c.5376del	ENSP00000420781.2:p.Asp1792GlufsTer16
ENST00000493919.6:c.2004del	ENSP00000418819.2:p.Asp668GlufsTer16
ENST00000494123.6:c.5454del	ENSP00000419103.2:p.Asp1818GlufsTer16
ENST00000497488.2:c.4566del	ENSP00000418986.2:p.Asp1522GlufsTer16
ENST00000618469.2:c.5454del	ENSP00000478114.2:p.Asp1818GlufsTer16
ENST00000634433.2:c.5331del	ENSP00000489431.2:p.Asp1777GlufsTer16
ENST00000644379.2:c.5520del	ENSP00000496570.2:p.Asp1840GlufsTer16
ENST00000644555.2:c.2004del	ENSP00000494614.2:p.Asp668GlufsTer16
ENST00000652672.2:c.5313del	ENSP00000498906.2:p.Asp1771GlufsTer16
ENST00000484087.6:c.2016del	ENSP00000419481.2:p.Asp672GlufsTer16
ENST00000700081.1:n.1337del
ENST00000700082.1:n.818del
ENST00000357654.9:c.5454del MANE Select	ENSP00000350283.3:p.Asp1818GlufsTer16
ENST00000471181.7:c.5517del	ENSP00000418960.2:p.Asp1839GlufsTer16
ENST00000644379.1:c.1841del
ENST00000352993.7:c.2028del	ENSP00000312236.5:p.Asp676GlufsTer16
ENST00000357654.7:c.5454del	ENSP00000350283.3:p.Asp1818GlufsTer16
ENST00000461221.5:c.*5237del	ENSP00000418548.1:n.*5237del
ENST00000468300.5:c.2068del	ENSP00000417148.1:p.Gln690AsnfsTer?
ENST00000471181.6:c.5517del	ENSP00000418960.2:p.Asp1839GlufsTer16
ENST00000491747.6:c.2142del	ENSP00000420705.2:p.Asp714GlufsTer16
ENST00000493795.5:c.5313del	ENSP00000418775.1:p.Asp1771GlufsTer16
ENST00000586385.5:c.384del	ENSP00000465818.1:p.Asp128GlufsTer16
ENST00000591534.5:c.927del	ENSP00000467329.1:p.Asp309GlufsTer16
ENST00000591849.5:c.153del	ENSP00000465347.1:p.Asp51GlufsTer16
NM_007294.3:c.5454del , LRG_292t1:c.5454del	NP_009225.1:p.Asp1818GlufsTer16
NM_007297.3:c.5313del	NP_009228.2:p.Asp1771GlufsTer16
NM_007298.3:c.2142del	NP_009229.2:p.Asp714GlufsTer16
NM_007299.3:c.2068del	NP_009230.2:p.Gln690AsnfsTer?
NM_007300.3:c.5517del	NP_009231.2:p.Asp1839GlufsTer16
NR_027676.1:n.5590del
NM_007294.4:c.5454del MANE Select	NP_009225.1:p.Asp1818GlufsTer16
NM_007297.4:c.5313del	NP_009228.2:p.Asp1771GlufsTer16
NM_007299.4:c.2068del	NP_009230.2:p.Gln690AsnfsTer?
NM_007300.4:c.5517del	NP_009231.2:p.Asp1839GlufsTer16
NR_027676.2:n.5631del