Canonical Allele Identifier: CA2499224467

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43092112_43092113insAGTAGTCA , CM000679.2:g.43092112_43092113insAGTAGTCA	GRCh38
NC_000017.10:g.41244129_41244130insAGTAGTCA , CM000679.1:g.41244129_41244130insAGTAGTCA	GRCh37
NC_000017.9:g.38497655_38497656insAGTAGTCA	NCBI36
NG_005905.2:g.125871_125872insTGACTACT , LRG_292:g.125871_125872insTGACTACT

Transcript Alleles

HGVS	Amino-acid change
ENST00000354071.8:n.3482_3483insTGACTACT
ENST00000461574.2:c.3418_3419insTGACTACT	ENSP00000417241.2:p.Ser1140MetfsTer18
ENST00000470026.6:c.3418_3419insTGACTACT	ENSP00000419274.2:p.Ser1140MetfsTer18
ENST00000473961.6:c.3292_3293insTGACTACT	ENSP00000420201.2:p.Ser1098MetfsTer18
ENST00000476777.6:c.3415_3416insTGACTACT	ENSP00000417554.2:p.Ser1139MetfsTer18
ENST00000477152.6:c.3340_3341insTGACTACT	ENSP00000419988.2:p.Ser1114MetfsTer18
ENST00000478531.6:c.785-1081_785-1080insTGACTACT	ENSP00000420412.2:n.785-1081_785-1080insTGACTACT
ENST00000489037.2:c.3340_3341insTGACTACT	ENSP00000420781.2:p.Ser1114MetfsTer18
ENST00000493919.6:c.647-1081_647-1080insTGACTACT	ENSP00000418819.2:n.647-1081_647-1080insTGACTACT
ENST00000494123.6:c.3418_3419insTGACTACT	ENSP00000419103.2:p.Ser1140MetfsTer18
ENST00000497488.2:c.2530_2531insTGACTACT	ENSP00000418986.2:p.Ser844MetfsTer18
ENST00000618469.2:c.3418_3419insTGACTACT	ENSP00000478114.2:p.Ser1140MetfsTer18
ENST00000634433.2:c.3295_3296insTGACTACT	ENSP00000489431.2:p.Ser1099MetfsTer18
ENST00000644379.2:c.3418_3419insTGACTACT	ENSP00000496570.2:p.Ser1140MetfsTer18
ENST00000644555.2:c.647-1081_647-1080insTGACTACT	ENSP00000494614.2:n.647-1081_647-1080insTGACTACT
ENST00000652672.2:c.3277_3278insTGACTACT	ENSP00000498906.2:p.Ser1093MetfsTer18
ENST00000484087.6:c.665-1081_665-1080insTGACTACT	ENSP00000419481.2:n.665-1081_665-1080insTGACTACT
ENST00000700182.1:c.707-1081_707-1080insTGACTACT	ENSP00000514849.1:n.707-1081_707-1080insTGACTACT
ENST00000357654.9:c.3418_3419insTGACTACT MANE Select	ENSP00000350283.3:p.Ser1140MetfsTer18
ENST00000471181.7:c.3418_3419insTGACTACT	ENSP00000418960.2:p.Ser1140MetfsTer18
ENST00000352993.7:c.671-1081_671-1080insTGACTACT	ENSP00000312236.5:n.671-1081_671-1080insTGACTACT
ENST00000354071.7:c.3418_3419insTGACTACT	ENSP00000326002.7:p.Ser1140MetfsTer18
ENST00000357654.7:c.3418_3419insTGACTACT	ENSP00000350283.3:p.Ser1140MetfsTer18
ENST00000461221.5:c.*3201_*3202insTGACTACT	ENSP00000418548.1:n.*3201_*3202insTGACTACT
ENST00000468300.5:c.788-1081_788-1080insTGACTACT	ENSP00000417148.1:n.788-1081_788-1080insTGACTACT
ENST00000471181.6:c.3418_3419insTGACTACT	ENSP00000418960.2:p.Ser1140MetfsTer18
ENST00000478531.5:c.785-1081_785-1080insTGACTACT	ENSP00000420412.1:n.785-1081_785-1080insTGACTACT
ENST00000484087.5:c.410-1081_410-1080insTGACTACT	ENSP00000419481.1:n.410-1081_410-1080insTGACTACT
ENST00000487825.5:c.413-1081_413-1080insTGACTACT	ENSP00000418212.1:n.413-1081_413-1080insTGACTACT
ENST00000491747.6:c.788-1081_788-1080insTGACTACT	ENSP00000420705.2:n.788-1081_788-1080insTGACTACT
ENST00000493795.5:c.3277_3278insTGACTACT	ENSP00000418775.1:p.Ser1093MetfsTer18
ENST00000493919.5:c.647-1081_647-1080insTGACTACT	ENSP00000418819.1:n.647-1081_647-1080insTGACTACT
ENST00000586385.5:c.5-28162_5-28161insTGACTACT	ENSP00000465818.1:n.5-28162_5-28161insTGACTACT
ENST00000591534.5:c.-43-17592_-43-17591insTGACTACT	ENSP00000467329.1:n.-43-17592_-43-17591insTGACTACT
ENST00000591849.5:c.-99+33158_-99+33159insTGACTACT	ENSP00000465347.1:n.-99+33158_-99+33159insTGACTACT
NM_007294.3:c.3418_3419insTGACTACT , LRG_292t1:c.3418_3419insTGACTACT	NP_009225.1:p.Ser1140MetfsTer18
NM_007297.3:c.3277_3278insTGACTACT	NP_009228.2:p.Ser1093MetfsTer18
NM_007298.3:c.788-1081_788-1080insTGACTACT	NP_009229.2:n.788-1081_788-1080insTGACTACT
NM_007299.3:c.788-1081_788-1080insTGACTACT	NP_009230.2:n.788-1081_788-1080insTGACTACT
NM_007300.3:c.3418_3419insTGACTACT	NP_009231.2:p.Ser1140MetfsTer18
NR_027676.1:n.3554_3555insTGACTACT
NM_007294.4:c.3418_3419insTGACTACT MANE Select	NP_009225.1:p.Ser1140MetfsTer18
NM_007297.4:c.3277_3278insTGACTACT	NP_009228.2:p.Ser1093MetfsTer18
NM_007299.4:c.788-1081_788-1080insTGACTACT	NP_009230.2:n.788-1081_788-1080insTGACTACT
NM_007300.4:c.3418_3419insTGACTACT	NP_009231.2:p.Ser1140MetfsTer18
NR_027676.2:n.3595_3596insTGACTACT