Canonical Allele Identifier: CA002173

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43104227_43104230del , CM000679.2:g.43104227_43104230del	GRCh38
NC_000017.10:g.41256244_41256247del , CM000679.1:g.41256244_41256247del	GRCh37
NC_000017.9:g.38509770_38509773del	NCBI36
NG_005905.2:g.113756_113759del , LRG_292:g.113756_113759del

Transcript Alleles

HGVS	Amino-acid Change
NM_007294.4:c.335_338del MANE Select	NP_009225.1:p.Asn112ThrfsTer6
ENST00000357654.9:c.335_338del MANE Select	ENSP00000350283.3:p.Asn112ThrfsTer6
NM_007294.3:c.335_338del , LRG_292t1:c.335_338del	NP_009225.1:p.Asn112ThrfsTer6
NM_007297.3:c.194_197del	NP_009228.2:p.Asn65ThrfsTer6
NM_007297.4:c.194_197del	NP_009228.2:p.Asn65ThrfsTer6
NM_007298.3:c.335_338del	NP_009229.2:p.Asn112ThrfsTer6
NM_007299.3:c.335_338del	NP_009230.2:p.Asn112ThrfsTer6
NM_007299.4:c.335_338del	NP_009230.2:p.Asn112ThrfsTer6
NM_007300.3:c.335_338del	NP_009231.2:p.Asn112ThrfsTer6
NM_007300.4:c.335_338del	NP_009231.2:p.Asn112ThrfsTer6
NR_027676.1:n.474_477del
NR_027676.2:n.515_518del
ENST00000352993.7:c.335_338del	ENSP00000312236.5:p.Asn112ThrfsTer6
ENST00000354071.7:c.335_338del	ENSP00000326002.7:p.Asn112ThrfsTer6
ENST00000354071.8:n.399_402del
ENST00000357654.7:c.335_338del	ENSP00000350283.3:p.Asn112ThrfsTer6
ENST00000461221.5:c.*121_*124del	ENSP00000418548.1:n.*121_*124del
ENST00000461574.2:c.335_338del	ENSP00000417241.2:p.Asn112ThrfsTer6
ENST00000461798.5:c.*121_*124del	ENSP00000417988.1:n.*121_*124del
ENST00000468300.5:c.335_338del	ENSP00000417148.1:p.Asn112ThrfsTer6
ENST00000470026.5:c.335_338del	ENSP00000419274.1:p.Asn112ThrfsTer6
ENST00000470026.6:c.335_338del	ENSP00000419274.2:p.Asn112ThrfsTer6
ENST00000471181.6:c.335_338del	ENSP00000418960.2:p.Asn112ThrfsTer6
ENST00000471181.7:c.335_338del	ENSP00000418960.2:p.Asn112ThrfsTer6
ENST00000473961.5:c.58_61del
ENST00000473961.6:c.335_338del	ENSP00000420201.2:p.Asn112ThrfsTer6
ENST00000476777.5:c.335_338del	ENSP00000417554.1:p.Asn112ThrfsTer6
ENST00000476777.6:c.335_338del	ENSP00000417554.2:p.Asn112ThrfsTer6
ENST00000477152.5:c.257_260del	ENSP00000419988.1:p.Asn86ThrfsTer6
ENST00000477152.6:c.257_260del	ENSP00000419988.2:p.Asn86ThrfsTer6
ENST00000478531.5:c.335_338del	ENSP00000420412.1:p.Asn112ThrfsTer6
ENST00000478531.6:c.335_338del	ENSP00000420412.2:p.Asn112ThrfsTer6
ENST00000484087.5:c.83_86del	ENSP00000419481.1:p.Asn28ThrfsTer6
ENST00000484087.6:c.335_338del	ENSP00000419481.2:p.Asn112ThrfsTer6
ENST00000487825.5:c.83_86del	ENSP00000418212.1:p.Asn28ThrfsTer6
ENST00000489037.1:c.257_260del	ENSP00000420781.1:p.Asn86ThrfsTer6
ENST00000489037.2:c.257_260del	ENSP00000420781.2:p.Asn86ThrfsTer6
ENST00000491747.6:c.335_338del	ENSP00000420705.2:p.Asn112ThrfsTer6
ENST00000492859.5:c.*271_*274del	ENSP00000420253.1:n.*271_*274del
ENST00000493795.5:c.194_197del	ENSP00000418775.1:p.Asn65ThrfsTer6
ENST00000493919.5:c.194_197del	ENSP00000418819.1:p.Asn65ThrfsTer6
ENST00000493919.6:c.194_197del	ENSP00000418819.2:p.Asn65ThrfsTer6
ENST00000494123.5:c.335_338del	ENSP00000419103.1:p.Asn112ThrfsTer6
ENST00000494123.6:c.335_338del	ENSP00000419103.2:p.Asn112ThrfsTer6
ENST00000497488.1:c.-218-9368_-218-9365del	ENSP00000418986.1:n.-218-9368_-218-9365del
ENST00000497488.2:c.-218-9368_-218-9365del	ENSP00000418986.2:n.-218-9368_-218-9365del
ENST00000586385.5:c.4+20954_4+20957del	ENSP00000465818.1:n.4+20954_4+20957del
ENST00000591534.5:c.-44+21043_-44+21046del	ENSP00000467329.1:n.-44+21043_-44+21046del
ENST00000591849.5:c.-99+21043_-99+21046del	ENSP00000465347.1:n.-99+21043_-99+21046del
ENST00000618469.2:c.335_338del	ENSP00000478114.2:p.Asn112ThrfsTer6
ENST00000634433.1:c.335_338del	ENSP00000489431.1:p.Asn112ThrfsTer6
ENST00000634433.2:c.335_338del	ENSP00000489431.2:p.Asn112ThrfsTer6
ENST00000642945.1:c.*209_*212del	ENSP00000495897.1:n.*209_*212del
ENST00000644379.2:c.335_338del	ENSP00000496570.2:p.Asn112ThrfsTer6
ENST00000644555.1:c.194_197del	ENSP00000494614.1:p.Asn65=
ENST00000644555.2:c.194_197del	ENSP00000494614.2:p.Asn65ThrfsTer6
ENST00000652672.1:c.194_197del	ENSP00000498906.1:p.Asn65ThrfsTer6
ENST00000652672.2:c.194_197del	ENSP00000498906.2:p.Asn65ThrfsTer6
ENST00000700083.1:n.1306_1309del
ENST00000700182.1:c.257_260del	ENSP00000514849.1:p.Asn86ThrfsTer6
ENST00000700183.1:c.*249_*252del	ENSP00000514850.1:n.*249_*252del
ENST00000700184.1:n.578_581del