Canonical Allele Identifier: CA002594

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 55092
• ClinVar RCV Id: RCV000257056 ; RCV000496912 ; RCV001271019
• dbSNP Id: rs397509134
• MyVariant Identifiers: chr17:g.41243480_41243486del (hg19) ; chr17:g.43091463_43091469del (hg38)
• PubMed: PMID:16287141

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43091465_43091471del , CM000679.2:g.43091465_43091471del	GRCh38
NC_000017.10:g.41243482_41243488del , CM000679.1:g.41243482_41243488del	GRCh37
NC_000017.9:g.38497008_38497014del	NCBI36
NG_005905.2:g.126515_126521del , LRG_292:g.126515_126521del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.4126_4132del
ENST00000461574.2:c.4062_4068del	ENSP00000417241.2:p.Asn1354LysfsTer10
ENST00000470026.6:c.4062_4068del	ENSP00000419274.2:p.Asn1354LysfsTer10
ENST00000473961.6:c.3936_3942del	ENSP00000420201.2:p.Asn1312LysfsTer10
ENST00000476777.6:c.4059_4065del	ENSP00000417554.2:p.Asn1353LysfsTer10
ENST00000477152.6:c.3984_3990del	ENSP00000419988.2:p.Asn1328LysfsTer10
ENST00000478531.6:c.785-437_785-431del	ENSP00000420412.2:n.785-437_785-431del
ENST00000489037.2:c.3984_3990del	ENSP00000420781.2:p.Asn1328LysfsTer10
ENST00000493919.6:c.647-437_647-431del	ENSP00000418819.2:n.647-437_647-431del
ENST00000494123.6:c.4062_4068del	ENSP00000419103.2:p.Asn1354LysfsTer10
ENST00000497488.2:c.3174_3180del	ENSP00000418986.2:p.Asn1058LysfsTer10
ENST00000618469.2:c.4062_4068del	ENSP00000478114.2:p.Asn1354LysfsTer10
ENST00000634433.2:c.3939_3945del	ENSP00000489431.2:p.Asn1313LysfsTer10
ENST00000644379.2:c.4062_4068del	ENSP00000496570.2:p.Asn1354LysfsTer10
ENST00000644555.2:c.647-437_647-431del	ENSP00000494614.2:n.647-437_647-431del
ENST00000652672.2:c.3921_3927del	ENSP00000498906.2:p.Asn1307LysfsTer10
ENST00000484087.6:c.665-437_665-431del	ENSP00000419481.2:n.665-437_665-431del
ENST00000700182.1:c.707-437_707-431del	ENSP00000514849.1:n.707-437_707-431del
ENST00000357654.9:c.4062_4068del MANE Select	ENSP00000350283.3:p.Asn1354LysfsTer10
ENST00000471181.7:c.4062_4068del	ENSP00000418960.2:p.Asn1354LysfsTer10
ENST00000644379.1:c.383_389del
ENST00000352993.7:c.671-437_671-431del	ENSP00000312236.5:n.671-437_671-431del
ENST00000354071.7:c.4062_4068del	ENSP00000326002.7:p.Asn1354LysfsTer10
ENST00000357654.7:c.4062_4068del	ENSP00000350283.3:p.Asn1354LysfsTer10
ENST00000461221.5:c.*3845_*3851del	ENSP00000418548.1:n.*3845_*3851del
ENST00000461574.1:c.356_362del
ENST00000468300.5:c.788-437_788-431del	ENSP00000417148.1:n.788-437_788-431del
ENST00000471181.6:c.4062_4068del	ENSP00000418960.2:p.Asn1354LysfsTer10
ENST00000478531.5:c.785-437_785-431del	ENSP00000420412.1:n.785-437_785-431del
ENST00000484087.5:c.410-437_410-431del	ENSP00000419481.1:n.410-437_410-431del
ENST00000487825.5:c.413-437_413-431del	ENSP00000418212.1:n.413-437_413-431del
ENST00000491747.6:c.788-437_788-431del	ENSP00000420705.2:n.788-437_788-431del
ENST00000493795.5:c.3921_3927del	ENSP00000418775.1:p.Asn1307LysfsTer10
ENST00000493919.5:c.647-437_647-431del	ENSP00000418819.1:n.647-437_647-431del
ENST00000586385.5:c.5-27518_5-27512del	ENSP00000465818.1:n.5-27518_5-27512del
ENST00000591534.5:c.-43-16948_-43-16942del	ENSP00000467329.1:n.-43-16948_-43-16942del
ENST00000591849.5:c.-99+33802_-99+33808del	ENSP00000465347.1:n.-99+33802_-99+33808del
NM_007294.3:c.4062_4068del , LRG_292t1:c.4062_4068del	NP_009225.1:p.Asn1354LysfsTer10
NM_007297.3:c.3921_3927del	NP_009228.2:p.Asn1307LysfsTer10
NM_007298.3:c.788-437_788-431del	NP_009229.2:n.788-437_788-431del
NM_007299.3:c.788-437_788-431del	NP_009230.2:n.788-437_788-431del
NM_007300.3:c.4062_4068del	NP_009231.2:p.Asn1354LysfsTer10
NR_027676.1:n.4198_4204del
NM_007294.4:c.4062_4068del MANE Select	NP_009225.1:p.Asn1354LysfsTer10
NM_007297.4:c.3921_3927del	NP_009228.2:p.Asn1307LysfsTer10
NM_007299.4:c.788-437_788-431del	NP_009230.2:n.788-437_788-431del
NM_007300.4:c.4062_4068del	NP_009231.2:p.Asn1354LysfsTer10
NR_027676.2:n.4239_4245del