Canonical Allele Identifier: CA10586610

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 254454
• ClinVar RCV Id: RCV000241444
• dbSNP Id: rs886038033
• MyVariant Identifiers: chr17:g.41234584_41234585insCC (hg19) ; chr17:g.43082567_43082568insCC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43082567_43082568insCC , CM000679.2:g.43082567_43082568insCC	GRCh38
NC_000017.10:g.41234584_41234585insCC , CM000679.1:g.41234584_41234585insCC	GRCh37
NC_000017.9:g.38488110_38488111insCC	NCBI36
NG_005905.2:g.135416_135417insGG , LRG_292:g.135416_135417insGG

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.4193_4194insGG	ENSP00000417241.2:p.Asp1398GlufsTer8
ENST00000470026.6:c.4193_4194insGG	ENSP00000419274.2:p.Asp1398GlufsTer8
ENST00000473961.6:c.4067_4068insGG	ENSP00000420201.2:p.Asp1356GlufsTer8
ENST00000476777.6:c.4187_4188insGG	ENSP00000417554.2:p.Asp1396GlufsTer8
ENST00000477152.6:c.4115_4116insGG	ENSP00000419988.2:p.Asp1372GlufsTer8
ENST00000478531.6:c.881_882insGG	ENSP00000420412.2:p.Asp294GlufsTer8
ENST00000489037.2:c.4115_4116insGG	ENSP00000420781.2:p.Asp1372GlufsTer8
ENST00000493919.6:c.743_744insGG	ENSP00000418819.2:p.Asp248GlufsTer8
ENST00000494123.6:c.4193_4194insGG	ENSP00000419103.2:p.Asp1398GlufsTer8
ENST00000497488.2:c.3305_3306insGG	ENSP00000418986.2:p.Asp1102GlufsTer8
ENST00000618469.2:c.4193_4194insGG	ENSP00000478114.2:p.Asp1398GlufsTer8
ENST00000634433.2:c.4070_4071insGG	ENSP00000489431.2:p.Asp1357GlufsTer8
ENST00000644379.2:c.4193_4194insGG	ENSP00000496570.2:p.Asp1398GlufsTer8
ENST00000644555.2:c.743_744insGG	ENSP00000494614.2:p.Asp248GlufsTer8
ENST00000652672.2:c.4052_4053insGG	ENSP00000498906.2:p.Asp1351GlufsTer8
ENST00000484087.6:c.758_759insGG	ENSP00000419481.2:p.Asp253GlufsTer8
ENST00000700182.1:c.803_804insGG	ENSP00000514849.1:p.Asp268GlufsTer8
ENST00000357654.9:c.4193_4194insGG MANE Select	ENSP00000350283.3:p.Asp1398GlufsTer8
ENST00000471181.7:c.4193_4194insGG	ENSP00000418960.2:p.Asp1398GlufsTer8
ENST00000644379.1:c.514_515insGG
ENST00000352993.7:c.767_768insGG	ENSP00000312236.5:p.Asp256GlufsTer8
ENST00000357654.7:c.4193_4194insGG	ENSP00000350283.3:p.Asp1398GlufsTer8
ENST00000461221.5:c.*3976_*3977insGG	ENSP00000418548.1:n.*3976_*3977insGG
ENST00000461574.1:c.487_488insGG
ENST00000468300.5:c.884_885insGG	ENSP00000417148.1:p.Asp295GlufsTer8
ENST00000471181.6:c.4193_4194insGG	ENSP00000418960.2:p.Asp1398GlufsTer8
ENST00000478531.5:c.881_882insGG	ENSP00000420412.1:p.Asp294GlufsTer8
ENST00000484087.5:c.506_507insGG	ENSP00000419481.1:p.Asp169GlufsTer8
ENST00000487825.5:c.509_510insGG	ENSP00000418212.1:p.Asp170GlufsTer8
ENST00000491747.6:c.884_885insGG	ENSP00000420705.2:p.Asp295GlufsTer8
ENST00000493795.5:c.4052_4053insGG	ENSP00000418775.1:p.Asp1351GlufsTer8
ENST00000493919.5:c.743_744insGG	ENSP00000418819.1:p.Asp248GlufsTer8
ENST00000586385.5:c.5-18617_5-18616insGG	ENSP00000465818.1:n.5-18617_5-18616insGG
ENST00000591534.5:c.-43-8047_-43-8046insGG	ENSP00000467329.1:n.-43-8047_-43-8046insG...
ENST00000591849.5:c.-98-32378_-98-32377insGG	ENSP00000465347.1:n.-98-32378_-98-32377in...
ENST00000621897.1:n.87_88insGG
NM_007294.3:c.4193_4194insGG , LRG_292t1:c.4193_4194insGG	NP_009225.1:p.Asp1398GlufsTer8
NM_007297.3:c.4052_4053insGG	NP_009228.2:p.Asp1351GlufsTer8
NM_007298.3:c.884_885insGG	NP_009229.2:p.Asp295GlufsTer8
NM_007299.3:c.884_885insGG	NP_009230.2:p.Asp295GlufsTer8
NM_007300.3:c.4193_4194insGG	NP_009231.2:p.Asp1398GlufsTer8
NR_027676.1:n.4329_4330insGG
NM_007294.4:c.4193_4194insGG MANE Select	NP_009225.1:p.Asp1398GlufsTer8
NM_007297.4:c.4052_4053insGG	NP_009228.2:p.Asp1351GlufsTer8
NM_007299.4:c.884_885insGG	NP_009230.2:p.Asp295GlufsTer8
NM_007300.4:c.4193_4194insGG	NP_009231.2:p.Asp1398GlufsTer8
NR_027676.2:n.4370_4371insGG