Canonical Allele Identifier: CA2260778031

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43082508_43082510delinsAAC , CM000679.2:g.43082508_43082510delinsAAC	GRCh38
NC_000017.10:g.41234525_41234527delinsAAC , CM000679.1:g.41234525_41234527delinsAAC	GRCh37
NC_000017.9:g.38488051_38488053delinsAAC	NCBI36
NG_005905.2:g.135474_135476delinsGTT , LRG_292:g.135474_135476delinsGTT

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.4251_4253delinsGTT	ENSP00000417241.2:p.Val1417=
ENST00000470026.6:c.4251_4253delinsGTT	ENSP00000419274.2:p.Val1417=
ENST00000473961.6:c.4125_4127delinsGTT	ENSP00000420201.2:p.Val1375=
ENST00000476777.6:c.4245_4247delinsGTT	ENSP00000417554.2:p.Val1415=
ENST00000477152.6:c.4173_4175delinsGTT	ENSP00000419988.2:p.Val1391=
ENST00000478531.6:c.939_941delinsGTT	ENSP00000420412.2:p.Val313=
ENST00000489037.2:c.4173_4175delinsGTT	ENSP00000420781.2:p.Val1391=
ENST00000493919.6:c.801_803delinsGTT	ENSP00000418819.2:p.Val267=
ENST00000494123.6:c.4251_4253delinsGTT	ENSP00000419103.2:p.Val1417=
ENST00000497488.2:c.3363_3365delinsGTT	ENSP00000418986.2:p.Val1121=
ENST00000618469.2:c.4251_4253delinsGTT	ENSP00000478114.2:p.Val1417=
ENST00000634433.2:c.4128_4130delinsGTT	ENSP00000489431.2:p.Val1376=
ENST00000644379.2:c.4251_4253delinsGTT	ENSP00000496570.2:p.Val1417=
ENST00000644555.2:c.801_803delinsGTT	ENSP00000494614.2:p.Val267=
ENST00000652672.2:c.4110_4112delinsGTT	ENSP00000498906.2:p.Val1370=
ENST00000484087.6:c.816_818delinsGTT	ENSP00000419481.2:p.Val272=
ENST00000700182.1:c.861_863delinsGTT	ENSP00000514849.1:p.Val287=
ENST00000357654.9:c.4251_4253delinsGTT MANE Select	ENSP00000350283.3:p.Val1417=
ENST00000471181.7:c.4251_4253delinsGTT	ENSP00000418960.2:p.Val1417=
ENST00000644379.1:c.572_574delinsGTT
ENST00000352993.7:c.825_827delinsGTT	ENSP00000312236.5:p.Val275=
ENST00000357654.7:c.4251_4253delinsGTT	ENSP00000350283.3:p.Val1417=
ENST00000461221.5:c.*4034_*4036delinsGTT	ENSP00000418548.1:n.*4034_*4036delinsGTT
ENST00000461574.1:c.545_547delinsGTT
ENST00000468300.5:c.942_944delinsGTT	ENSP00000417148.1:p.Val314=
ENST00000471181.6:c.4251_4253delinsGTT	ENSP00000418960.2:p.Val1417=
ENST00000478531.5:c.939_941delinsGTT	ENSP00000420412.1:p.Val313=
ENST00000484087.5:c.564_566delinsGTT	ENSP00000419481.1:p.Val188=
ENST00000487825.5:c.567_569delinsGTT	ENSP00000418212.1:p.Val189=
ENST00000491747.6:c.942_944delinsGTT	ENSP00000420705.2:p.Val314=
ENST00000493795.5:c.4110_4112delinsGTT	ENSP00000418775.1:p.Val1370=
ENST00000493919.5:c.801_803delinsGTT	ENSP00000418819.1:p.Val267=
ENST00000586385.5:c.5-18559_5-18557delinsGTT	ENSP00000465818.1:n.5-18559_5-18557delinsGTT
ENST00000591534.5:c.-43-7989_-43-7987delinsGTT	ENSP00000467329.1:n.-43-7989_-43-7987delinsGTT
ENST00000591849.5:c.-98-32320_-98-32318delinsGTT	ENSP00000465347.1:n.-98-32320_-98-32318delinsGTT
ENST00000621897.1:n.145_147delinsGTT
NM_007294.3:c.4251_4253delinsGTT , LRG_292t1:c.4251_4253delinsGTT	NP_009225.1:p.Val1417=
NM_007297.3:c.4110_4112delinsGTT	NP_009228.2:p.Val1370=
NM_007298.3:c.942_944delinsGTT	NP_009229.2:p.Val314=
NM_007299.3:c.942_944delinsGTT	NP_009230.2:p.Val314=
NM_007300.3:c.4251_4253delinsGTT	NP_009231.2:p.Val1417=
NR_027676.1:n.4387_4389delinsGTT
NM_007294.4:c.4251_4253delinsGTT MANE Select	NP_009225.1:p.Val1417=
NM_007297.4:c.4110_4112delinsGTT	NP_009228.2:p.Val1370=
NM_007299.4:c.942_944delinsGTT	NP_009230.2:p.Val314=
NM_007300.4:c.4251_4253delinsGTT	NP_009231.2:p.Val1417=
NR_027676.2:n.4428_4430delinsGTT