Canonical Allele Identifier: CA2499224440

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43091002_43091003del , CM000679.2:g.43091002_43091003del	GRCh38
NC_000017.10:g.41243019_41243020del , CM000679.1:g.41243019_41243020del	GRCh37
NC_000017.9:g.38496545_38496546del	NCBI36
NG_005905.2:g.126982_126983del , LRG_292:g.126982_126983del

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.4127_4128del	ENSP00000417241.2:p.Thr1376LysfsTer4
ENST00000470026.6:c.4127_4128del	ENSP00000419274.2:p.Thr1376LysfsTer4
ENST00000473961.6:c.4001_4002del	ENSP00000420201.2:p.Thr1334LysfsTer4
ENST00000476777.6:c.4124_4125del	ENSP00000417554.2:p.Thr1375LysfsTer4
ENST00000477152.6:c.4049_4050del	ENSP00000419988.2:p.Thr1350LysfsTer4
ENST00000478531.6:c.815_816del	ENSP00000420412.2:p.Thr272LysfsTer4
ENST00000489037.2:c.4049_4050del	ENSP00000420781.2:p.Thr1350LysfsTer4
ENST00000493919.6:c.677_678del	ENSP00000418819.2:p.Thr226LysfsTer4
ENST00000494123.6:c.4127_4128del	ENSP00000419103.2:p.Thr1376LysfsTer4
ENST00000497488.2:c.3239_3240del	ENSP00000418986.2:p.Thr1080LysfsTer4
ENST00000618469.2:c.4127_4128del	ENSP00000478114.2:p.Thr1376LysfsTer4
ENST00000634433.2:c.4004_4005del	ENSP00000489431.2:p.Thr1335LysfsTer4
ENST00000644379.2:c.4127_4128del	ENSP00000496570.2:p.Thr1376LysfsTer4
ENST00000644555.2:c.677_678del	ENSP00000494614.2:p.Thr226LysfsTer4
ENST00000652672.2:c.3986_3987del	ENSP00000498906.2:p.Thr1329LysfsTer4
ENST00000484087.6:c.695_696del	ENSP00000419481.2:p.Thr232LysfsTer4
ENST00000700182.1:c.737_738del	ENSP00000514849.1:p.Thr246LysfsTer4
ENST00000357654.9:c.4127_4128del MANE Select	ENSP00000350283.3:p.Thr1376LysfsTer4
ENST00000471181.7:c.4127_4128del	ENSP00000418960.2:p.Thr1376LysfsTer4
ENST00000644379.1:c.448_449del
ENST00000352993.7:c.701_702del	ENSP00000312236.5:p.Thr234LysfsTer4
ENST00000357654.7:c.4127_4128del	ENSP00000350283.3:p.Thr1376LysfsTer4
ENST00000461221.5:c.*3910_*3911del	ENSP00000418548.1:n.*3910_*3911del
ENST00000461574.1:c.421_422del
ENST00000468300.5:c.818_819del	ENSP00000417148.1:p.Thr273LysfsTer4
ENST00000471181.6:c.4127_4128del	ENSP00000418960.2:p.Thr1376LysfsTer4
ENST00000478531.5:c.815_816del	ENSP00000420412.1:p.Thr272LysfsTer4
ENST00000484087.5:c.440_441del	ENSP00000419481.1:p.Thr147LysfsTer4
ENST00000487825.5:c.443_444del	ENSP00000418212.1:p.Thr148LysfsTer4
ENST00000491747.6:c.818_819del	ENSP00000420705.2:p.Thr273LysfsTer4
ENST00000493795.5:c.3986_3987del	ENSP00000418775.1:p.Thr1329LysfsTer4
ENST00000493919.5:c.677_678del	ENSP00000418819.1:p.Thr226LysfsTer4
ENST00000586385.5:c.5-27051_5-27050del	ENSP00000465818.1:n.5-27051_5-27050del
ENST00000591534.5:c.-43-16481_-43-16480del	ENSP00000467329.1:n.-43-16481_-43-16480del
ENST00000591849.5:c.-99+34269_-99+34270del	ENSP00000465347.1:n.-99+34269_-99+34270del
NM_007294.3:c.4127_4128del , LRG_292t1:c.4127_4128del	NP_009225.1:p.Thr1376LysfsTer4
NM_007297.3:c.3986_3987del	NP_009228.2:p.Thr1329LysfsTer4
NM_007298.3:c.818_819del	NP_009229.2:p.Thr273LysfsTer4
NM_007299.3:c.818_819del	NP_009230.2:p.Thr273LysfsTer4
NM_007300.3:c.4127_4128del	NP_009231.2:p.Thr1376LysfsTer4
NR_027676.1:n.4263_4264del
NM_007294.4:c.4127_4128del MANE Select	NP_009225.1:p.Thr1376LysfsTer4
NM_007297.4:c.3986_3987del	NP_009228.2:p.Thr1329LysfsTer4
NM_007299.4:c.818_819del	NP_009230.2:p.Thr273LysfsTer4
NM_007300.4:c.4127_4128del	NP_009231.2:p.Thr1376LysfsTer4
NR_027676.2:n.4304_4305del