Canonical Allele Identifier: CA002593

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 91621
• ClinVar RCV Id: RCV000077138
• dbSNP Id: rs398122679
• MyVariant Identifiers: chr17:g.41243483_41243486del (hg19) ; chr17:g.43091466_43091469del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43091466_43091469del , CM000679.2:g.43091466_43091469del	GRCh38
NC_000017.10:g.41243483_41243486del , CM000679.1:g.41243483_41243486del	GRCh37
NC_000017.9:g.38497009_38497012del	NCBI36
NG_005905.2:g.126515_126518del , LRG_292:g.126515_126518del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.4126_4129del
ENST00000461574.2:c.4062_4065del	ENSP00000417241.2:p.Asn1355LysfsTer10
ENST00000470026.6:c.4062_4065del	ENSP00000419274.2:p.Asn1355LysfsTer10
ENST00000473961.6:c.3936_3939del	ENSP00000420201.2:p.Asn1313LysfsTer10
ENST00000476777.6:c.4059_4062del	ENSP00000417554.2:p.Asn1354LysfsTer10
ENST00000477152.6:c.3984_3987del	ENSP00000419988.2:p.Asn1329LysfsTer10
ENST00000478531.6:c.785-437_785-434del	ENSP00000420412.2:n.785-437_785-434del
ENST00000489037.2:c.3984_3987del	ENSP00000420781.2:p.Asn1329LysfsTer10
ENST00000493919.6:c.647-437_647-434del	ENSP00000418819.2:n.647-437_647-434del
ENST00000494123.6:c.4062_4065del	ENSP00000419103.2:p.Asn1355LysfsTer10
ENST00000497488.2:c.3174_3177del	ENSP00000418986.2:p.Asn1059LysfsTer10
ENST00000618469.2:c.4062_4065del	ENSP00000478114.2:p.Asn1355LysfsTer10
ENST00000634433.2:c.3939_3942del	ENSP00000489431.2:p.Asn1314LysfsTer10
ENST00000644379.2:c.4062_4065del	ENSP00000496570.2:p.Asn1355LysfsTer10
ENST00000644555.2:c.647-437_647-434del	ENSP00000494614.2:n.647-437_647-434del
ENST00000652672.2:c.3921_3924del	ENSP00000498906.2:p.Asn1308LysfsTer10
ENST00000484087.6:c.665-437_665-434del	ENSP00000419481.2:n.665-437_665-434del
ENST00000700182.1:c.707-437_707-434del	ENSP00000514849.1:n.707-437_707-434del
ENST00000357654.9:c.4062_4065del MANE Select	ENSP00000350283.3:p.Asn1355LysfsTer10
ENST00000471181.7:c.4062_4065del	ENSP00000418960.2:p.Asn1355LysfsTer10
ENST00000644379.1:c.383_386del
ENST00000352993.7:c.671-437_671-434del	ENSP00000312236.5:n.671-437_671-434del
ENST00000354071.7:c.4062_4065del	ENSP00000326002.7:p.Asn1355LysfsTer10
ENST00000357654.7:c.4062_4065del	ENSP00000350283.3:p.Asn1355LysfsTer10
ENST00000461221.5:c.*3845_*3848del	ENSP00000418548.1:n.*3845_*3848del
ENST00000461574.1:c.356_359del
ENST00000468300.5:c.788-437_788-434del	ENSP00000417148.1:n.788-437_788-434del
ENST00000471181.6:c.4062_4065del	ENSP00000418960.2:p.Asn1355LysfsTer10
ENST00000478531.5:c.785-437_785-434del	ENSP00000420412.1:n.785-437_785-434del
ENST00000484087.5:c.410-437_410-434del	ENSP00000419481.1:n.410-437_410-434del
ENST00000487825.5:c.413-437_413-434del	ENSP00000418212.1:n.413-437_413-434del
ENST00000491747.6:c.788-437_788-434del	ENSP00000420705.2:n.788-437_788-434del
ENST00000493795.5:c.3921_3924del	ENSP00000418775.1:p.Asn1308LysfsTer10
ENST00000493919.5:c.647-437_647-434del	ENSP00000418819.1:n.647-437_647-434del
ENST00000586385.5:c.5-27518_5-27515del	ENSP00000465818.1:n.5-27518_5-27515del
ENST00000591534.5:c.-43-16948_-43-16945del	ENSP00000467329.1:n.-43-16948_-43-16945del
ENST00000591849.5:c.-99+33802_-99+33805del	ENSP00000465347.1:n.-99+33802_-99+33805del
NM_007294.3:c.4062_4065del , LRG_292t1:c.4062_4065del	NP_009225.1:p.Asn1355LysfsTer10
NM_007297.3:c.3921_3924del	NP_009228.2:p.Asn1308LysfsTer10
NM_007298.3:c.788-437_788-434del	NP_009229.2:n.788-437_788-434del
NM_007299.3:c.788-437_788-434del	NP_009230.2:n.788-437_788-434del
NM_007300.3:c.4062_4065del	NP_009231.2:p.Asn1355LysfsTer10
NR_027676.1:n.4198_4201del
NM_007294.4:c.4062_4065del MANE Select	NP_009225.1:p.Asn1355LysfsTer10
NM_007297.4:c.3921_3924del	NP_009228.2:p.Asn1308LysfsTer10
NM_007299.4:c.788-437_788-434del	NP_009230.2:n.788-437_788-434del
NM_007300.4:c.4062_4065del	NP_009231.2:p.Asn1355LysfsTer10
NR_027676.2:n.4239_4242del