Canonical Allele Identifier: CA16620419

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 420726
• ClinVar RCV Id: RCV001209699
• dbSNP Id: rs1064794662
• MyVariant Identifiers: chr17:g.41201146del (hg19) ; chr17:g.43049129del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43049131del , CM000679.2:g.43049131del	GRCh38
NC_000017.10:g.41201148del , CM000679.1:g.41201148del	GRCh37
NC_000017.9:g.38454674del	NCBI36
NG_005905.2:g.168855del , LRG_292:g.168855del

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.5395del	ENSP00000417241.2:p.Gly1800AlafsTer?
ENST00000470026.6:c.5398del	ENSP00000419274.2:p.Gly1801AlafsTer?
ENST00000473961.6:c.5272del	ENSP00000420201.2:p.Gly1759AlafsTer?
ENST00000476777.6:c.5392del	ENSP00000417554.2:p.Gly1799AlafsTer?
ENST00000477152.6:c.5320del	ENSP00000419988.2:p.Gly1775AlafsTer?
ENST00000478531.6:c.2086del	ENSP00000420412.2:p.Gly697AlafsTer?
ENST00000489037.2:c.5320del	ENSP00000420781.2:p.Gly1775AlafsTer?
ENST00000493919.6:c.1948del	ENSP00000418819.2:p.Gly651AlafsTer?
ENST00000494123.6:c.5398del	ENSP00000419103.2:p.Gly1801AlafsTer?
ENST00000497488.2:c.4510del	ENSP00000418986.2:p.Gly1505AlafsTer?
ENST00000618469.2:c.5398del	ENSP00000478114.2:p.Gly1801AlafsTer?
ENST00000634433.2:c.5275del	ENSP00000489431.2:p.Gly1760AlafsTer?
ENST00000644379.2:c.5464del	ENSP00000496570.2:p.Gly1823AlafsTer?
ENST00000644555.2:c.1948del	ENSP00000494614.2:p.Gly651AlafsTer?
ENST00000652672.2:c.5257del	ENSP00000498906.2:p.Gly1754AlafsTer?
ENST00000484087.6:c.1960del	ENSP00000419481.2:p.Gly655AlafsTer?
ENST00000700081.1:n.1281del
ENST00000357654.9:c.5398del MANE Select	ENSP00000350283.3:p.Gly1801AlafsTer?
ENST00000471181.7:c.5461del	ENSP00000418960.2:p.Gly1822AlafsTer?
ENST00000644379.1:c.1785del
ENST00000352993.7:c.1972del	ENSP00000312236.5:p.Gly659AlafsTer?
ENST00000357654.7:c.5398del	ENSP00000350283.3:p.Gly1801AlafsTer?
ENST00000461221.5:c.*5181del	ENSP00000418548.1:n.*5181del
ENST00000468300.5:c.2021-1426del	ENSP00000417148.1:n.2021-1426del
ENST00000471181.6:c.5461del	ENSP00000418960.2:p.Gly1822AlafsTer?
ENST00000491747.6:c.2086del	ENSP00000420705.2:p.Gly697AlafsTer?
ENST00000493795.5:c.5257del	ENSP00000418775.1:p.Gly1754AlafsTer?
ENST00000586385.5:c.328del	ENSP00000465818.1:p.Gly111AlafsTer?
ENST00000591534.5:c.871del	ENSP00000467329.1:p.Gly292AlafsTer?
ENST00000591849.5:c.97del	ENSP00000465347.1:p.Gly34AlafsTer?
NM_007294.3:c.5398del , LRG_292t1:c.5398del	NP_009225.1:p.Gly1801AlafsTer?
NM_007297.3:c.5257del	NP_009228.2:p.Gly1754AlafsTer?
NM_007298.3:c.2086del	NP_009229.2:p.Gly697AlafsTer?
NM_007299.3:c.2021-1426del	NP_009230.2:n.2021-1426del
NM_007300.3:c.5461del	NP_009231.2:p.Gly1822AlafsTer?
NR_027676.1:n.5534del
NM_007294.4:c.5398del MANE Select	NP_009225.1:p.Gly1801AlafsTer?
NM_007297.4:c.5257del	NP_009228.2:p.Gly1754AlafsTer?
NM_007299.4:c.2021-1426del	NP_009230.2:n.2021-1426del
NM_007300.4:c.5461del	NP_009231.2:p.Gly1822AlafsTer?
NR_027676.2:n.5575del