Canonical Allele Identifier: CA10586619

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 125646
• ClinVar RCV Id: RCV000112159
• dbSNP Id: rs886038023
• MyVariant Identifiers: chr17:g.41243801_41243834del (hg19) ; chr17:g.43091784_43091817del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43091788_43091821del , CM000679.2:g.43091788_43091821del	GRCh38
NC_000017.10:g.41243805_41243838del , CM000679.1:g.41243805_41243838del	GRCh37
NC_000017.9:g.38497331_38497364del	NCBI36
NG_005905.2:g.126167_126200del , LRG_292:g.126167_126200del

Transcript Alleles

HGVS	Amino-acid change
ENST00000354071.8:n.3778_3811del
ENST00000461574.2:c.3714_3747del	ENSP00000417241.2:p.Gln1240ValfsTer13
ENST00000470026.6:c.3714_3747del	ENSP00000419274.2:p.Gln1240ValfsTer13
ENST00000473961.6:c.3588_3621del	ENSP00000420201.2:p.Gln1198ValfsTer13
ENST00000476777.6:c.3711_3744del	ENSP00000417554.2:p.Gln1239ValfsTer13
ENST00000477152.6:c.3636_3669del	ENSP00000419988.2:p.Gln1214ValfsTer13
ENST00000478531.6:c.785-785_785-752del	ENSP00000420412.2:n.785-785_785-752del
ENST00000489037.2:c.3636_3669del	ENSP00000420781.2:p.Gln1214ValfsTer13
ENST00000493919.6:c.647-785_647-752del	ENSP00000418819.2:n.647-785_647-752del
ENST00000494123.6:c.3714_3747del	ENSP00000419103.2:p.Gln1240ValfsTer13
ENST00000497488.2:c.2826_2859del	ENSP00000418986.2:p.Gln944ValfsTer13
ENST00000618469.2:c.3714_3747del	ENSP00000478114.2:p.Gln1240ValfsTer13
ENST00000634433.2:c.3591_3624del	ENSP00000489431.2:p.Gln1199ValfsTer13
ENST00000644379.2:c.3714_3747del	ENSP00000496570.2:p.Gln1240ValfsTer13
ENST00000644555.2:c.647-785_647-752del	ENSP00000494614.2:n.647-785_647-752del
ENST00000652672.2:c.3573_3606del	ENSP00000498906.2:p.Gln1193ValfsTer13
ENST00000484087.6:c.665-785_665-752del	ENSP00000419481.2:n.665-785_665-752del
ENST00000700182.1:c.707-785_707-752del	ENSP00000514849.1:n.707-785_707-752del
ENST00000357654.9:c.3714_3747del MANE Select	ENSP00000350283.3:p.Gln1240ValfsTer13
ENST00000471181.7:c.3714_3747del	ENSP00000418960.2:p.Gln1240ValfsTer13
ENST00000644379.1:c.35_68del
ENST00000352993.7:c.671-785_671-752del	ENSP00000312236.5:n.671-785_671-752del
ENST00000354071.7:c.3714_3747del	ENSP00000326002.7:p.Gln1240ValfsTer13
ENST00000357654.7:c.3714_3747del	ENSP00000350283.3:p.Gln1240ValfsTer13
ENST00000461221.5:c.*3497_*3530del	ENSP00000418548.1:n.*3497_*3530del
ENST00000461574.1:c.8_41del
ENST00000468300.5:c.788-785_788-752del	ENSP00000417148.1:n.788-785_788-752del
ENST00000471181.6:c.3714_3747del	ENSP00000418960.2:p.Gln1240ValfsTer13
ENST00000478531.5:c.785-785_785-752del	ENSP00000420412.1:n.785-785_785-752del
ENST00000484087.5:c.410-785_410-752del	ENSP00000419481.1:n.410-785_410-752del
ENST00000487825.5:c.413-785_413-752del	ENSP00000418212.1:n.413-785_413-752del
ENST00000491747.6:c.788-785_788-752del	ENSP00000420705.2:n.788-785_788-752del
ENST00000493795.5:c.3573_3606del	ENSP00000418775.1:p.Gln1193ValfsTer13
ENST00000493919.5:c.647-785_647-752del	ENSP00000418819.1:n.647-785_647-752del
ENST00000586385.5:c.5-27866_5-27833del	ENSP00000465818.1:n.5-27866_5-27833del
ENST00000591534.5:c.-43-17296_-43-17263del	ENSP00000467329.1:n.-43-17296_-43-17263de...
ENST00000591849.5:c.-99+33454_-99+33487del	ENSP00000465347.1:n.-99+33454_-99+33487de...
NM_007294.3:c.3714_3747del , LRG_292t1:c.3714_3747del	NP_009225.1:p.Gln1240ValfsTer13
NM_007297.3:c.3573_3606del	NP_009228.2:p.Gln1193ValfsTer13
NM_007298.3:c.788-785_788-752del	NP_009229.2:n.788-785_788-752del
NM_007299.3:c.788-785_788-752del	NP_009230.2:n.788-785_788-752del
NM_007300.3:c.3714_3747del	NP_009231.2:p.Gln1240ValfsTer13
NR_027676.1:n.3850_3883del
NM_007294.4:c.3714_3747del MANE Select	NP_009225.1:p.Gln1240ValfsTer13
NM_007297.4:c.3573_3606del	NP_009228.2:p.Gln1193ValfsTer13
NM_007299.4:c.788-785_788-752del	NP_009230.2:n.788-785_788-752del
NM_007300.4:c.3714_3747del	NP_009231.2:p.Gln1240ValfsTer13
NR_027676.2:n.3891_3924del