Canonical Allele Identifier: CA003603

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 55584
• ClinVar RCV Id: RCV000256624 ; RCV000496780 ; RCV000509919
• dbSNP Id: rs397509286
• MyVariant Identifiers: chr17:g.41199676_41199677del (hg19) ; chr17:g.43047659_43047660del (hg38)
• PubMed: PMID:16287141

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43047661_43047662del , CM000679.2:g.43047661_43047662del	GRCh38
NC_000017.10:g.41199678_41199679del , CM000679.1:g.41199678_41199679del	GRCh37
NC_000017.9:g.38453204_38453205del	NCBI36
NG_005905.2:g.170324_170325del , LRG_292:g.170324_170325del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5447_5448del	ENSP00000417241.2:p.Glu1816GlyfsTer12
ENST00000470026.6:c.5450_5451del	ENSP00000419274.2:p.Glu1817GlyfsTer12
ENST00000473961.6:c.5324_5325del	ENSP00000420201.2:p.Glu1775GlyfsTer12
ENST00000476777.6:c.5444_5445del	ENSP00000417554.2:p.Glu1815GlyfsTer12
ENST00000477152.6:c.5372_5373del	ENSP00000419988.2:p.Glu1791GlyfsTer12
ENST00000478531.6:c.2138_2139del	ENSP00000420412.2:p.Glu713GlyfsTer12
ENST00000489037.2:c.5372_5373del	ENSP00000420781.2:p.Glu1791GlyfsTer12
ENST00000493919.6:c.2000_2001del	ENSP00000418819.2:p.Glu667GlyfsTer12
ENST00000494123.6:c.5450_5451del	ENSP00000419103.2:p.Glu1817GlyfsTer12
ENST00000497488.2:c.4562_4563del	ENSP00000418986.2:p.Glu1521GlyfsTer12
ENST00000618469.2:c.5450_5451del	ENSP00000478114.2:p.Glu1817GlyfsTer12
ENST00000634433.2:c.5327_5328del	ENSP00000489431.2:p.Glu1776GlyfsTer12
ENST00000644379.2:c.5516_5517del	ENSP00000496570.2:p.Glu1839GlyfsTer12
ENST00000644555.2:c.2000_2001del	ENSP00000494614.2:p.Glu667GlyfsTer12
ENST00000652672.2:c.5309_5310del	ENSP00000498906.2:p.Glu1770GlyfsTer12
ENST00000484087.6:c.2012_2013del	ENSP00000419481.2:p.Glu671GlyfsTer12
ENST00000700081.1:n.1333_1334del
ENST00000700082.1:n.814_815del
ENST00000357654.9:c.5450_5451del MANE Select	ENSP00000350283.3:p.Glu1817GlyfsTer12
ENST00000471181.7:c.5513_5514del	ENSP00000418960.2:p.Glu1838GlyfsTer12
ENST00000644379.1:c.1837_1838del
ENST00000352993.7:c.2024_2025del	ENSP00000312236.5:p.Glu675GlyfsTer12
ENST00000357654.7:c.5450_5451del	ENSP00000350283.3:p.Glu1817GlyfsTer12
ENST00000461221.5:c.*5233_*5234del	ENSP00000418548.1:n.*5233_*5234del
ENST00000468300.5:c.2064_2065del	ENSP00000417148.1:p.Gly689ThrfsTer16
ENST00000471181.6:c.5513_5514del	ENSP00000418960.2:p.Glu1838GlyfsTer12
ENST00000491747.6:c.2138_2139del	ENSP00000420705.2:p.Glu713GlyfsTer12
ENST00000493795.5:c.5309_5310del	ENSP00000418775.1:p.Glu1770GlyfsTer12
ENST00000586385.5:c.380_381del	ENSP00000465818.1:p.Glu127GlyfsTer12
ENST00000591534.5:c.923_924del	ENSP00000467329.1:p.Glu308GlyfsTer12
ENST00000591849.5:c.149_150del	ENSP00000465347.1:p.Glu50GlyfsTer12
NM_007294.3:c.5450_5451del , LRG_292t1:c.5450_5451del	NP_009225.1:p.Glu1817GlyfsTer12
NM_007297.3:c.5309_5310del	NP_009228.2:p.Glu1770GlyfsTer12
NM_007298.3:c.2138_2139del	NP_009229.2:p.Glu713GlyfsTer12
NM_007299.3:c.2064_2065del	NP_009230.2:p.Gly689ThrfsTer16
NM_007300.3:c.5513_5514del	NP_009231.2:p.Glu1838GlyfsTer12
NR_027676.1:n.5586_5587del
NM_007294.4:c.5450_5451del MANE Select	NP_009225.1:p.Glu1817GlyfsTer12
NM_007297.4:c.5309_5310del	NP_009228.2:p.Glu1770GlyfsTer12
NM_007299.4:c.2064_2065del	NP_009230.2:p.Gly689ThrfsTer16
NM_007300.4:c.5513_5514del	NP_009231.2:p.Glu1838GlyfsTer12
NR_027676.2:n.5627_5628del