Canonical Allele Identifier: CA2638063171

Gene: BRCA1

Linked Data

• gnomAD v4: 17-43104780-TCAC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43104784_43104786del , CM000679.2:g.43104784_43104786del	GRCh38
NC_000017.10:g.41256801_41256803del , CM000679.1:g.41256801_41256803del	GRCh37
NC_000017.9:g.38510327_38510329del	NCBI36
NG_005905.2:g.113201_113203del , LRG_292:g.113201_113203del

Transcript Alleles

HGVS	Amino-acid change
ENST00000354071.8:n.365+85_365+87del
ENST00000461574.2:c.301+85_301+87del	ENSP00000417241.2:n.301+85_301+87del
ENST00000470026.6:c.301+85_301+87del	ENSP00000419274.2:n.301+85_301+87del
ENST00000473961.6:c.301+85_301+87del	ENSP00000420201.2:n.301+85_301+87del
ENST00000476777.6:c.301+85_301+87del	ENSP00000417554.2:n.301+85_301+87del
ENST00000477152.6:c.223+85_223+87del	ENSP00000419988.2:n.223+85_223+87del
ENST00000478531.6:c.301+85_301+87del	ENSP00000420412.2:n.301+85_301+87del
ENST00000489037.2:c.223+85_223+87del	ENSP00000420781.2:n.223+85_223+87del
ENST00000493919.6:c.160+85_160+87del	ENSP00000418819.2:n.160+85_160+87del
ENST00000494123.6:c.301+85_301+87del	ENSP00000419103.2:n.301+85_301+87del
ENST00000497488.2:c.-218-9923_-218-9921del	ENSP00000418986.2:n.-218-9923_-218-9921del
ENST00000618469.2:c.301+85_301+87del	ENSP00000478114.2:n.301+85_301+87del
ENST00000634433.2:c.301+85_301+87del	ENSP00000489431.2:n.301+85_301+87del
ENST00000644379.2:c.301+85_301+87del	ENSP00000496570.2:n.301+85_301+87del
ENST00000644555.2:c.160+85_160+87del	ENSP00000494614.2:n.160+85_160+87del
ENST00000652672.2:c.160+85_160+87del	ENSP00000498906.2:n.160+85_160+87del
ENST00000484087.6:c.301+85_301+87del	ENSP00000419481.2:n.301+85_301+87del
ENST00000700083.1:n.1272+85_1272+87del
ENST00000700182.1:c.223+85_223+87del	ENSP00000514849.1:n.223+85_223+87del
ENST00000700183.1:c.*215+85_*215+87del	ENSP00000514850.1:n.*215+85_*215+87del
ENST00000700184.1:n.544+85_544+87del
ENST00000357654.9:c.301+85_301+87del MANE Select	ENSP00000350283.3:n.301+85_301+87del
ENST00000471181.7:c.301+85_301+87del	ENSP00000418960.2:n.301+85_301+87del
ENST00000642945.1:c.*175+85_*175+87del	ENSP00000495897.1:n.*175+85_*175+87del
ENST00000644555.1:c.160+85_160+87del	ENSP00000494614.1:n.160+85_160+87del
ENST00000652672.1:c.160+85_160+87del	ENSP00000498906.1:n.160+85_160+87del
ENST00000352993.7:c.301+85_301+87del	ENSP00000312236.5:n.301+85_301+87del
ENST00000354071.7:c.301+85_301+87del	ENSP00000326002.7:n.301+85_301+87del
ENST00000357654.7:c.301+85_301+87del	ENSP00000350283.3:n.301+85_301+87del
ENST00000461221.5:c.*87+85_*87+87del	ENSP00000418548.1:n.*87+85_*87+87del
ENST00000461798.5:c.*87+85_*87+87del	ENSP00000417988.1:n.*87+85_*87+87del
ENST00000468300.5:c.301+85_301+87del	ENSP00000417148.1:n.301+85_301+87del
ENST00000470026.5:c.301+85_301+87del	ENSP00000419274.1:n.301+85_301+87del
ENST00000471181.6:c.301+85_301+87del	ENSP00000418960.2:n.301+85_301+87del
ENST00000473961.5:c.24+85_24+87del
ENST00000476777.5:c.301+85_301+87del	ENSP00000417554.1:n.301+85_301+87del
ENST00000477152.5:c.223+85_223+87del	ENSP00000419988.1:n.223+85_223+87del
ENST00000478531.5:c.301+85_301+87del	ENSP00000420412.1:n.301+85_301+87del
ENST00000484087.5:c.49+85_49+87del	ENSP00000419481.1:n.49+85_49+87del
ENST00000487825.5:c.49+85_49+87del	ENSP00000418212.1:n.49+85_49+87del
ENST00000489037.1:c.223+85_223+87del	ENSP00000420781.1:n.223+85_223+87del
ENST00000491747.6:c.301+85_301+87del	ENSP00000420705.2:n.301+85_301+87del
ENST00000492859.5:c.*237+85_*237+87del	ENSP00000420253.1:n.*237+85_*237+87del
ENST00000493795.5:c.160+85_160+87del	ENSP00000418775.1:n.160+85_160+87del
ENST00000493919.5:c.160+85_160+87del	ENSP00000418819.1:n.160+85_160+87del
ENST00000494123.5:c.301+85_301+87del	ENSP00000419103.1:n.301+85_301+87del
ENST00000497488.1:c.-218-9923_-218-9921del	ENSP00000418986.1:n.-218-9923_-218-9921del
ENST00000586385.5:c.4+20399_4+20401del	ENSP00000465818.1:n.4+20399_4+20401del
ENST00000591534.5:c.-44+20488_-44+20490del	ENSP00000467329.1:n.-44+20488_-44+20490del
ENST00000591849.5:c.-99+20488_-99+20490del	ENSP00000465347.1:n.-99+20488_-99+20490del
ENST00000634433.1:c.301+85_301+87del	ENSP00000489431.1:n.301+85_301+87del
NM_007294.3:c.301+85_301+87del , LRG_292t1:c.301+85_301+87del	NP_009225.1:n.301+85_301+87del
NM_007297.3:c.160+85_160+87del	NP_009228.2:n.160+85_160+87del
NM_007298.3:c.301+85_301+87del	NP_009229.2:n.301+85_301+87del
NM_007299.3:c.301+85_301+87del	NP_009230.2:n.301+85_301+87del
NM_007300.3:c.301+85_301+87del	NP_009231.2:n.301+85_301+87del
NR_027676.1:n.440+85_440+87del
NM_007294.4:c.301+85_301+87del MANE Select	NP_009225.1:n.301+85_301+87del
NM_007297.4:c.160+85_160+87del	NP_009228.2:n.160+85_160+87del
NM_007299.4:c.301+85_301+87del	NP_009230.2:n.301+85_301+87del
NM_007300.4:c.301+85_301+87del	NP_009231.2:n.301+85_301+87del
NR_027676.2:n.481+85_481+87del