Canonical Allele Identifier: CA2638062798

Gene: BRCA1

Linked Data

• gnomAD v4: 17-43094392-T-TCCA

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43094392_43094393insCCA , CM000679.2:g.43094392_43094393insCCA	GRCh38
NC_000017.10:g.41246409_41246410insCCA , CM000679.1:g.41246409_41246410insCCA	GRCh37
NC_000017.9:g.38499935_38499936insCCA	NCBI36
NG_005905.2:g.123591_123592insTGG , LRG_292:g.123591_123592insTGG

Transcript Alleles

HGVS	Amino-acid change
ENST00000354071.8:n.1202_1203insTGG
ENST00000461574.2:c.1138_1139insTGG	ENSP00000417241.2:p.Gln380delinsLeuGlu
ENST00000470026.6:c.1138_1139insTGG	ENSP00000419274.2:p.Gln380delinsLeuGlu
ENST00000473961.6:c.1012_1013insTGG	ENSP00000420201.2:p.Gln338delinsLeuGlu
ENST00000476777.6:c.1135_1136insTGG	ENSP00000417554.2:p.Gln379delinsLeuGlu
ENST00000477152.6:c.1060_1061insTGG	ENSP00000419988.2:p.Gln354delinsLeuGlu
ENST00000478531.6:c.784+351_784+352insTGG	ENSP00000420412.2:n.784+351_784+352insTGG
ENST00000489037.2:c.1060_1061insTGG	ENSP00000420781.2:p.Gln354delinsLeuGlu
ENST00000493919.6:c.646+351_646+352insTGG	ENSP00000418819.2:n.646+351_646+352insTGG
ENST00000494123.6:c.1138_1139insTGG	ENSP00000419103.2:p.Gln380delinsLeuGlu
ENST00000497488.2:c.250_251insTGG	ENSP00000418986.2:p.Gln84delinsLeuGlu
ENST00000618469.2:c.1138_1139insTGG	ENSP00000478114.2:p.Gln380delinsLeuGlu
ENST00000634433.2:c.1015_1016insTGG	ENSP00000489431.2:p.Gln339delinsLeuGlu
ENST00000644379.2:c.1138_1139insTGG	ENSP00000496570.2:p.Gln380delinsLeuGlu
ENST00000644555.2:c.646+351_646+352insTGG	ENSP00000494614.2:n.646+351_646+352insTGG
ENST00000652672.2:c.997_998insTGG	ENSP00000498906.2:p.Gln333delinsLeuGlu
ENST00000484087.6:c.664+351_664+352insTGG	ENSP00000419481.2:n.664+351_664+352insTGG
ENST00000700182.1:c.706+351_706+352insTGG	ENSP00000514849.1:n.706+351_706+352insTGG
ENST00000700183.1:c.*1146_*1147insTGG	ENSP00000514850.1:n.*1146_*1147insTGG
ENST00000357654.9:c.1138_1139insTGG MANE Select	ENSP00000350283.3:p.Gln380delinsLeuGlu
ENST00000471181.7:c.1138_1139insTGG	ENSP00000418960.2:p.Gln380delinsLeuGlu
ENST00000652672.1:c.997_998insTGG	ENSP00000498906.1:p.Gln333delinsLeuGlu
ENST00000352993.7:c.670+1453_670+1454insTGG	ENSP00000312236.5:n.670+1453_670+1454insTGG
ENST00000354071.7:c.1138_1139insTGG	ENSP00000326002.7:p.Gln380delinsLeuGlu
ENST00000357654.7:c.1138_1139insTGG	ENSP00000350283.3:p.Gln380delinsLeuGlu
ENST00000412061.3:c.489_490insTGG
ENST00000461221.5:c.*921_*922insTGG	ENSP00000418548.1:n.*921_*922insTGG
ENST00000468300.5:c.787+351_787+352insTGG	ENSP00000417148.1:n.787+351_787+352insTGG
ENST00000470026.5:c.1138_1139insTGG	ENSP00000419274.1:p.Gln380delinsLeuGlu
ENST00000471181.6:c.1138_1139insTGG	ENSP00000418960.2:p.Gln380delinsLeuGlu
ENST00000473961.5:c.735_736insTGG
ENST00000477152.5:c.1060_1061insTGG	ENSP00000419988.1:p.Gln354delinsLeuGlu
ENST00000478531.5:c.784+351_784+352insTGG	ENSP00000420412.1:n.784+351_784+352insTGG
ENST00000484087.5:c.409+351_409+352insTGG	ENSP00000419481.1:n.409+351_409+352insTGG
ENST00000487825.5:c.412+351_412+352insTGG	ENSP00000418212.1:n.412+351_412+352insTGG
ENST00000491747.6:c.787+351_787+352insTGG	ENSP00000420705.2:n.787+351_787+352insTGG
ENST00000492859.5:c.*1074_*1075insTGG	ENSP00000420253.1:n.*1074_*1075insTGG
ENST00000493795.5:c.997_998insTGG	ENSP00000418775.1:p.Gln333delinsLeuGlu
ENST00000493919.5:c.646+351_646+352insTGG	ENSP00000418819.1:n.646+351_646+352insTGG
ENST00000494123.5:c.1138_1139insTGG	ENSP00000419103.1:p.Gln380delinsLeuGlu
ENST00000497488.1:c.250_251insTGG	ENSP00000418986.1:p.Gln84delinsLeuGlu
ENST00000586385.5:c.5-30442_5-30441insTGG	ENSP00000465818.1:n.5-30442_5-30441insTGG
ENST00000591534.5:c.-43-19872_-43-19871insTGG	ENSP00000467329.1:n.-43-19872_-43-19871insTGG
ENST00000591849.5:c.-99+30878_-99+30879insTGG	ENSP00000465347.1:n.-99+30878_-99+30879insTGG
ENST00000634433.1:c.1015_1016insTGG	ENSP00000489431.1:p.Gln339delinsLeuGlu
NM_007294.3:c.1138_1139insTGG , LRG_292t1:c.1138_1139insTGG	NP_009225.1:p.Gln380delinsLeuGlu
NM_007297.3:c.997_998insTGG	NP_009228.2:p.Gln333delinsLeuGlu
NM_007298.3:c.787+351_787+352insTGG	NP_009229.2:n.787+351_787+352insTGG
NM_007299.3:c.787+351_787+352insTGG	NP_009230.2:n.787+351_787+352insTGG
NM_007300.3:c.1138_1139insTGG	NP_009231.2:p.Gln380delinsLeuGlu
NR_027676.1:n.1274_1275insTGG
NM_007294.4:c.1138_1139insTGG MANE Select	NP_009225.1:p.Gln380delinsLeuGlu
NM_007297.4:c.997_998insTGG	NP_009228.2:p.Gln333delinsLeuGlu
NM_007299.4:c.787+351_787+352insTGG	NP_009230.2:n.787+351_787+352insTGG
NM_007300.4:c.1138_1139insTGG	NP_009231.2:p.Gln380delinsLeuGlu
NR_027676.2:n.1315_1316insTGG