Canonical Allele Identifier: CA003724

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 187111
• ClinVar RCV Id: RCV000166801 ; RCV000239265 ; RCV000461501 ; RCV001269184 ; RCV004554739
• dbSNP Id: rs775417240
• ExAC: 17:41197707 GTGGGGGATC / G
• gnomAD v2: 17-41197707-GTGGGGGATC-G
• gnomAD v3: 17-43045690-GTGGGGGATC-G
• gnomAD v4: 17-43045690-GTGGGGGATC-G
• MyVariant Identifiers: chr17:g.41197708_41197716del (hg19) ; chr17:g.43045691_43045699del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43045696_43045704del , CM000679.2:g.43045696_43045704del	GRCh38
NC_000017.10:g.41197713_41197721del , CM000679.1:g.41197713_41197721del	GRCh37
NC_000017.9:g.38451239_38451247del	NCBI36
NG_005905.2:g.172285_172293del , LRG_292:g.172285_172293del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5568_5576del	ENSP00000417241.2:p.Gln1856_Pro1858del
ENST00000470026.6:c.5571_5579del	ENSP00000419274.2:p.Gln1857_Pro1859del
ENST00000473961.6:c.5445_5453del	ENSP00000420201.2:p.Gln1815_Pro1817del
ENST00000476777.6:c.5565_5573del	ENSP00000417554.2:p.Gln1855_Pro1857del
ENST00000477152.6:c.5493_5501del	ENSP00000419988.2:p.Gln1831_Pro1833del
ENST00000478531.6:c.2259_2267del	ENSP00000420412.2:p.Gln753_Pro755del
ENST00000489037.2:c.5493_5501del	ENSP00000420781.2:p.Gln1831_Pro1833del
ENST00000493919.6:c.2121_2129del	ENSP00000418819.2:p.Gln707_Pro709del
ENST00000494123.6:c.5571_5579del	ENSP00000419103.2:p.Gln1857_Pro1859del
ENST00000497488.2:c.4683_4691del	ENSP00000418986.2:p.Gln1561_Pro1563del
ENST00000618469.2:c.5571_5579del	ENSP00000478114.2:p.Gln1857_Pro1859del
ENST00000634433.2:c.5448_5456del	ENSP00000489431.2:p.Gln1816_Pro1818del
ENST00000644379.2:c.5637_5645del	ENSP00000496570.2:p.Gln1879_Pro1881del
ENST00000644555.2:c.2121_2129del	ENSP00000494614.2:p.Gln707_Pro709del
ENST00000652672.2:c.5430_5438del	ENSP00000498906.2:p.Gln1810_Pro1812del
ENST00000484087.6:c.2133_2141del	ENSP00000419481.2:p.Gln711_Pro713del
ENST00000700081.1:n.1454_1462del
ENST00000700082.1:n.935_943del
ENST00000357654.9:c.5571_5579del MANE Select	ENSP00000350283.3:p.Gln1857_Pro1859del
ENST00000471181.7:c.5634_5642del	ENSP00000418960.2:p.Gln1878_Pro1880del
ENST00000644379.1:c.1958_1966del
ENST00000352993.7:c.2145_2153del	ENSP00000312236.5:p.Gln715_Pro717del
ENST00000357654.7:c.5571_5579del	ENSP00000350283.3:p.Gln1857_Pro1859del
ENST00000461221.5:c.*5354_*5362del	ENSP00000418548.1:n.*5354_*5362del
ENST00000468300.5:c.*85_*93del	ENSP00000417148.1:n.*85_*93del
ENST00000471181.6:c.5634_5642del	ENSP00000418960.2:p.Gln1878_Pro1880del
ENST00000491747.6:c.2259_2267del	ENSP00000420705.2:p.Gln753_Pro755del
ENST00000493795.5:c.5430_5438del	ENSP00000418775.1:p.Gln1810_Pro1812del
ENST00000586385.5:c.501_509del	ENSP00000465818.1:p.Gln167_Pro169del
ENST00000591534.5:c.1044_1052del	ENSP00000467329.1:p.Gln348_Pro350del
ENST00000591849.5:c.270_278del	ENSP00000465347.1:p.Gln90_Pro92del
NM_007294.3:c.5571_5579del , LRG_292t1:c.5571_5579del	NP_009225.1:p.Gln1857_Pro1859del
NM_007297.3:c.5430_5438del	NP_009228.2:p.Gln1810_Pro1812del
NM_007298.3:c.2259_2267del	NP_009229.2:p.Gln753_Pro755del
NM_007299.3:c.*85_*93del	NP_009230.2:n.*85_*93del
NM_007300.3:c.5634_5642del	NP_009231.2:p.Gln1878_Pro1880del
NR_027676.1:n.5707_5715del
NM_007294.4:c.5571_5579del MANE Select	NP_009225.1:p.Gln1857_Pro1859del
NM_007297.4:c.5430_5438del	NP_009228.2:p.Gln1810_Pro1812del
NM_007299.4:c.*85_*93del	NP_009230.2:n.*85_*93del
NM_007300.4:c.5634_5642del	NP_009231.2:p.Gln1878_Pro1880del
NR_027676.2:n.5748_5756del