Canonical Allele Identifier: CA772174489

Gene: BRCA1

Linked Data

• dbSNP Id: rs1222051624
• gnomAD v3: 17-43064825-GCA-G
• gnomAD v4: 17-43064825-GCA-G
• MyVariant Identifiers: chr17:g.41216843_41216844del (hg19) ; chr17:g.43064826_43064827del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43064826_43064827del , CM000679.2:g.43064826_43064827del	GRCh38
NC_000017.10:g.41216843_41216844del , CM000679.1:g.41216843_41216844del	GRCh37
NC_000017.9:g.38470369_38470370del	NCBI36
NG_005905.2:g.153157_153158del , LRG_292:g.153157_153158del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5072-876_5072-875del	ENSP00000417241.2:n.5072-876_5072-875del
ENST00000470026.6:c.5075-876_5075-875del	ENSP00000419274.2:n.5075-876_5075-875del
ENST00000473961.6:c.4949-876_4949-875del	ENSP00000420201.2:n.4949-876_4949-875del
ENST00000476777.6:c.5069-876_5069-875del	ENSP00000417554.2:n.5069-876_5069-875del
ENST00000477152.6:c.4997-876_4997-875del	ENSP00000419988.2:n.4997-876_4997-875del
ENST00000478531.6:c.1763-876_1763-875del	ENSP00000420412.2:n.1763-876_1763-875del
ENST00000489037.2:c.4997-876_4997-875del	ENSP00000420781.2:n.4997-876_4997-875del
ENST00000493919.6:c.1625-876_1625-875del	ENSP00000418819.2:n.1625-876_1625-875del
ENST00000494123.6:c.5075-876_5075-875del	ENSP00000419103.2:n.5075-876_5075-875del
ENST00000497488.2:c.4187-876_4187-875del	ENSP00000418986.2:n.4187-876_4187-875del
ENST00000618469.2:c.5075-876_5075-875del	ENSP00000478114.2:n.5075-876_5075-875del
ENST00000634433.2:c.4952-876_4952-875del	ENSP00000489431.2:n.4952-876_4952-875del
ENST00000644379.2:c.5141-876_5141-875del	ENSP00000496570.2:n.5141-876_5141-875del
ENST00000644555.2:c.1625-876_1625-875del	ENSP00000494614.2:n.1625-876_1625-875del
ENST00000652672.2:c.4934-876_4934-875del	ENSP00000498906.2:n.4934-876_4934-875del
ENST00000484087.6:c.1637-876_1637-875del	ENSP00000419481.2:n.1637-876_1637-875del
ENST00000357654.9:c.5075-876_5075-875del MANE Select	ENSP00000350283.3:n.5075-876_5075-875del
ENST00000471181.7:c.5138-876_5138-875del	ENSP00000418960.2:n.5138-876_5138-875del
ENST00000644379.1:c.1462-876_1462-875del
ENST00000352993.7:c.1649-876_1649-875del	ENSP00000312236.5:n.1649-876_1649-875del
ENST00000357654.7:c.5075-876_5075-875del	ENSP00000350283.3:n.5075-876_5075-875del
ENST00000461221.5:c.*4858-876_*4858-875del	ENSP00000418548.1:n.*4858-876_*4858-875del
ENST00000468300.5:c.1763-876_1763-875del	ENSP00000417148.1:n.1763-876_1763-875del
ENST00000471181.6:c.5138-876_5138-875del	ENSP00000418960.2:n.5138-876_5138-875del
ENST00000478531.5:c.1763-876_1763-875del	ENSP00000420412.1:n.1763-876_1763-875del
ENST00000484087.5:c.1388-876_1388-875del	ENSP00000419481.1:n.1388-876_1388-875del
ENST00000491747.6:c.1763-876_1763-875del	ENSP00000420705.2:n.1763-876_1763-875del
ENST00000493795.5:c.4934-876_4934-875del	ENSP00000418775.1:n.4934-876_4934-875del
ENST00000493919.5:c.1625-876_1625-875del	ENSP00000418819.1:n.1625-876_1625-875del
ENST00000586385.5:c.5-876_5-875del	ENSP00000465818.1:n.5-876_5-875del
ENST00000591534.5:c.548-876_548-875del	ENSP00000467329.1:n.548-876_548-875del
ENST00000591849.5:c.-98-14637_-98-14636del	ENSP00000465347.1:n.-98-14637_-98-14636del
NM_007294.3:c.5075-876_5075-875del , LRG_292t1:c.5075-876_5075-875del	NP_009225.1:n.5075-876_5075-875del
NM_007297.3:c.4934-876_4934-875del	NP_009228.2:n.4934-876_4934-875del
NM_007298.3:c.1763-876_1763-875del	NP_009229.2:n.1763-876_1763-875del
NM_007299.3:c.1763-876_1763-875del	NP_009230.2:n.1763-876_1763-875del
NM_007300.3:c.5138-876_5138-875del	NP_009231.2:n.5138-876_5138-875del
NR_027676.1:n.5211-876_5211-875del
NM_007294.4:c.5075-876_5075-875del MANE Select	NP_009225.1:n.5075-876_5075-875del
NM_007297.4:c.4934-876_4934-875del	NP_009228.2:n.4934-876_4934-875del
NM_007299.4:c.1763-876_1763-875del	NP_009230.2:n.1763-876_1763-875del
NM_007300.4:c.5138-876_5138-875del	NP_009231.2:n.5138-876_5138-875del
NR_027676.2:n.5252-876_5252-875del