Canonical Allele Identifier: CA2260769926

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43064732_43064736delinsCATTT , CM000679.2:g.43064732_43064736delinsCATTT	GRCh38
NC_000017.10:g.41216749_41216753delinsCATTT , CM000679.1:g.41216749_41216753delinsCATTT	GRCh37
NC_000017.9:g.38470275_38470279delinsCATTT	NCBI36
NG_005905.2:g.153248_153252delinsAAATG , LRG_292:g.153248_153252delinsAAATG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5072-785_5072-781delinsAAATG	ENSP00000417241.2:n.5072-785_5072-781delinsAAATG
ENST00000470026.6:c.5075-785_5075-781delinsAAATG	ENSP00000419274.2:n.5075-785_5075-781delinsAAATG
ENST00000473961.6:c.4949-785_4949-781delinsAAATG	ENSP00000420201.2:n.4949-785_4949-781delinsAAATG
ENST00000476777.6:c.5069-785_5069-781delinsAAATG	ENSP00000417554.2:n.5069-785_5069-781delinsAAATG
ENST00000477152.6:c.4997-785_4997-781delinsAAATG	ENSP00000419988.2:n.4997-785_4997-781delinsAAATG
ENST00000478531.6:c.1763-785_1763-781delinsAAATG	ENSP00000420412.2:n.1763-785_1763-781delinsAAATG
ENST00000489037.2:c.4997-785_4997-781delinsAAATG	ENSP00000420781.2:n.4997-785_4997-781delinsAAATG
ENST00000493919.6:c.1625-785_1625-781delinsAAATG	ENSP00000418819.2:n.1625-785_1625-781delinsAAATG
ENST00000494123.6:c.5075-785_5075-781delinsAAATG	ENSP00000419103.2:n.5075-785_5075-781delinsAAATG
ENST00000497488.2:c.4187-785_4187-781delinsAAATG	ENSP00000418986.2:n.4187-785_4187-781delinsAAATG
ENST00000618469.2:c.5075-785_5075-781delinsAAATG	ENSP00000478114.2:n.5075-785_5075-781delinsAAATG
ENST00000634433.2:c.4952-785_4952-781delinsAAATG	ENSP00000489431.2:n.4952-785_4952-781delinsAAATG
ENST00000644379.2:c.5141-785_5141-781delinsAAATG	ENSP00000496570.2:n.5141-785_5141-781delinsAAATG
ENST00000644555.2:c.1625-785_1625-781delinsAAATG	ENSP00000494614.2:n.1625-785_1625-781delinsAAATG
ENST00000652672.2:c.4934-785_4934-781delinsAAATG	ENSP00000498906.2:n.4934-785_4934-781delinsAAATG
ENST00000484087.6:c.1637-785_1637-781delinsAAATG	ENSP00000419481.2:n.1637-785_1637-781delinsAAATG
ENST00000357654.9:c.5075-785_5075-781delinsAAATG MANE Select	ENSP00000350283.3:n.5075-785_5075-781delinsAAATG
ENST00000471181.7:c.5138-785_5138-781delinsAAATG	ENSP00000418960.2:n.5138-785_5138-781delinsAAATG
ENST00000644379.1:c.1462-785_1462-781delinsAAATG
ENST00000352993.7:c.1649-785_1649-781delinsAAATG	ENSP00000312236.5:n.1649-785_1649-781delinsAAATG
ENST00000357654.7:c.5075-785_5075-781delinsAAATG	ENSP00000350283.3:n.5075-785_5075-781delinsAAATG
ENST00000461221.5:c.*4858-785_*4858-781delinsAAATG	ENSP00000418548.1:n.*4858-785_*4858-781delinsAAATG
ENST00000468300.5:c.1763-785_1763-781delinsAAATG	ENSP00000417148.1:n.1763-785_1763-781delinsAAATG
ENST00000471181.6:c.5138-785_5138-781delinsAAATG	ENSP00000418960.2:n.5138-785_5138-781delinsAAATG
ENST00000478531.5:c.1763-785_1763-781delinsAAATG	ENSP00000420412.1:n.1763-785_1763-781delinsAAATG
ENST00000484087.5:c.1388-785_1388-781delinsAAATG	ENSP00000419481.1:n.1388-785_1388-781delinsAAATG
ENST00000491747.6:c.1763-785_1763-781delinsAAATG	ENSP00000420705.2:n.1763-785_1763-781delinsAAATG
ENST00000493795.5:c.4934-785_4934-781delinsAAATG	ENSP00000418775.1:n.4934-785_4934-781delinsAAATG
ENST00000493919.5:c.1625-785_1625-781delinsAAATG	ENSP00000418819.1:n.1625-785_1625-781delinsAAATG
ENST00000586385.5:c.5-785_5-781delinsAAATG	ENSP00000465818.1:n.5-785_5-781delinsAAATG
ENST00000591534.5:c.548-785_548-781delinsAAATG	ENSP00000467329.1:n.548-785_548-781delinsAAATG
ENST00000591849.5:c.-98-14546_-98-14542delinsAAATG	ENSP00000465347.1:n.-98-14546_-98-14542delinsAAATG
NM_007294.3:c.5075-785_5075-781delinsAAATG , LRG_292t1:c.5075-785_5075-781delinsAAATG	NP_009225.1:n.5075-785_5075-781delinsAAATG
NM_007297.3:c.4934-785_4934-781delinsAAATG	NP_009228.2:n.4934-785_4934-781delinsAAATG
NM_007298.3:c.1763-785_1763-781delinsAAATG	NP_009229.2:n.1763-785_1763-781delinsAAATG
NM_007299.3:c.1763-785_1763-781delinsAAATG	NP_009230.2:n.1763-785_1763-781delinsAAATG
NM_007300.3:c.5138-785_5138-781delinsAAATG	NP_009231.2:n.5138-785_5138-781delinsAAATG
NR_027676.1:n.5211-785_5211-781delinsAAATG
NM_007294.4:c.5075-785_5075-781delinsAAATG MANE Select	NP_009225.1:n.5075-785_5075-781delinsAAATG
NM_007297.4:c.4934-785_4934-781delinsAAATG	NP_009228.2:n.4934-785_4934-781delinsAAATG
NM_007299.4:c.1763-785_1763-781delinsAAATG	NP_009230.2:n.1763-785_1763-781delinsAAATG
NM_007300.4:c.5138-785_5138-781delinsAAATG	NP_009231.2:n.5138-785_5138-781delinsAAATG
NR_027676.2:n.5252-785_5252-781delinsAAATG