Canonical Allele Identifier: CA915950133

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 822926
• ClinVar RCV Id: RCV001018699
• dbSNP Id: rs1597865601

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43092414_43092418delinsCC , CM000679.2:g.43092414_43092418delinsCC	GRCh38
NC_000017.10:g.41244431_41244435delinsCC , CM000679.1:g.41244431_41244435delinsCC	GRCh37
NC_000017.9:g.38497957_38497961delinsCC	NCBI36
NG_005905.2:g.125566_125570delinsGG , LRG_292:g.125566_125570delinsGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.3177_3181delinsGG
ENST00000461574.2:c.3113_3117delinsGG	ENSP00000417241.2:p.Glu1038_Ala1039delinsGly
ENST00000470026.6:c.3113_3117delinsGG	ENSP00000419274.2:p.Glu1038_Ala1039delinsGly
ENST00000473961.6:c.2987_2991delinsGG	ENSP00000420201.2:p.Glu996_Ala997delinsGly
ENST00000476777.6:c.3110_3114delinsGG	ENSP00000417554.2:p.Glu1037_Ala1038delinsGly
ENST00000477152.6:c.3035_3039delinsGG	ENSP00000419988.2:p.Glu1012_Ala1013delinsGly
ENST00000478531.6:c.785-1386_785-1382delinsGG	ENSP00000420412.2:n.785-1386_785-1382delinsGG
ENST00000489037.2:c.3035_3039delinsGG	ENSP00000420781.2:p.Glu1012_Ala1013delinsGly
ENST00000493919.6:c.647-1386_647-1382delinsGG	ENSP00000418819.2:n.647-1386_647-1382delinsGG
ENST00000494123.6:c.3113_3117delinsGG	ENSP00000419103.2:p.Glu1038_Ala1039delinsGly
ENST00000497488.2:c.2225_2229delinsGG	ENSP00000418986.2:p.Glu742_Ala743delinsGly
ENST00000618469.2:c.3113_3117delinsGG	ENSP00000478114.2:p.Glu1038_Ala1039delinsGly
ENST00000634433.2:c.2990_2994delinsGG	ENSP00000489431.2:p.Glu997_Ala998delinsGly
ENST00000644379.2:c.3113_3117delinsGG	ENSP00000496570.2:p.Glu1038_Ala1039delinsGly
ENST00000644555.2:c.647-1386_647-1382delinsGG	ENSP00000494614.2:n.647-1386_647-1382delinsGG
ENST00000652672.2:c.2972_2976delinsGG	ENSP00000498906.2:p.Glu991_Ala992delinsGly
ENST00000484087.6:c.665-1386_665-1382delinsGG	ENSP00000419481.2:n.665-1386_665-1382delinsGG
ENST00000700182.1:c.707-1386_707-1382delinsGG	ENSP00000514849.1:n.707-1386_707-1382delinsGG
ENST00000357654.9:c.3113_3117delinsGG MANE Select	ENSP00000350283.3:p.Glu1038_Ala1039delinsGly
ENST00000471181.7:c.3113_3117delinsGG	ENSP00000418960.2:p.Glu1038_Ala1039delinsGly
ENST00000352993.7:c.671-1386_671-1382delinsGG	ENSP00000312236.5:n.671-1386_671-1382delinsGG
ENST00000354071.7:c.3113_3117delinsGG	ENSP00000326002.7:p.Glu1038_Ala1039delinsGly
ENST00000357654.7:c.3113_3117delinsGG	ENSP00000350283.3:p.Glu1038_Ala1039delinsGly
ENST00000461221.5:c.*2896_*2900delinsGG	ENSP00000418548.1:n.*2896_*2900delinsGG
ENST00000468300.5:c.788-1386_788-1382delinsGG	ENSP00000417148.1:n.788-1386_788-1382delinsGG
ENST00000471181.6:c.3113_3117delinsGG	ENSP00000418960.2:p.Glu1038_Ala1039delinsGly
ENST00000478531.5:c.785-1386_785-1382delinsGG	ENSP00000420412.1:n.785-1386_785-1382delinsGG
ENST00000484087.5:c.410-1386_410-1382delinsGG	ENSP00000419481.1:n.410-1386_410-1382delinsGG
ENST00000487825.5:c.413-1386_413-1382delinsGG	ENSP00000418212.1:n.413-1386_413-1382delinsGG
ENST00000491747.6:c.788-1386_788-1382delinsGG	ENSP00000420705.2:n.788-1386_788-1382delinsGG
ENST00000493795.5:c.2972_2976delinsGG	ENSP00000418775.1:p.Glu991_Ala992delinsGly
ENST00000493919.5:c.647-1386_647-1382delinsGG	ENSP00000418819.1:n.647-1386_647-1382delinsGG
ENST00000586385.5:c.5-28467_5-28463delinsGG	ENSP00000465818.1:n.5-28467_5-28463delinsGG
ENST00000591534.5:c.-43-17897_-43-17893delinsGG	ENSP00000467329.1:n.-43-17897_-43-17893delinsGG
ENST00000591849.5:c.-99+32853_-99+32857delinsGG	ENSP00000465347.1:n.-99+32853_-99+32857delinsGG
NM_007294.3:c.3113_3117delinsGG , LRG_292t1:c.3113_3117delinsGG	NP_009225.1:p.Glu1038_Ala1039delinsGly
NM_007297.3:c.2972_2976delinsGG	NP_009228.2:p.Glu991_Ala992delinsGly
NM_007298.3:c.788-1386_788-1382delinsGG	NP_009229.2:n.788-1386_788-1382delinsGG
NM_007299.3:c.788-1386_788-1382delinsGG	NP_009230.2:n.788-1386_788-1382delinsGG
NM_007300.3:c.3113_3117delinsGG	NP_009231.2:p.Glu1038_Ala1039delinsGly
NR_027676.1:n.3249_3253delinsGG
NM_007294.4:c.3113_3117delinsGG MANE Select	NP_009225.1:p.Glu1038_Ala1039delinsGly
NM_007297.4:c.2972_2976delinsGG	NP_009228.2:p.Glu991_Ala992delinsGly
NM_007299.4:c.788-1386_788-1382delinsGG	NP_009230.2:n.788-1386_788-1382delinsGG
NM_007300.4:c.3113_3117delinsGG	NP_009231.2:p.Glu1038_Ala1039delinsGly
NR_027676.2:n.3290_3294delinsGG