Canonical Allele Identifier: CA658825022

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 548305
• ClinVar RCV Id: RCV000661329
• dbSNP Id: rs1555584262
• MyVariant Identifiers: chr17:g.41234583_41234584insCC (hg19) ; chr17:g.43082566_43082567insCC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43082566_43082567insCC , CM000679.2:g.43082566_43082567insCC	GRCh38
NC_000017.10:g.41234583_41234584insCC , CM000679.1:g.41234583_41234584insCC	GRCh37
NC_000017.9:g.38488109_38488110insCC	NCBI36
NG_005905.2:g.135417_135418insGG , LRG_292:g.135417_135418insGG

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.4194_4195insGG	ENSP00000417241.2:p.Thr1399GlyfsTer7
ENST00000470026.6:c.4194_4195insGG	ENSP00000419274.2:p.Thr1399GlyfsTer7
ENST00000473961.6:c.4068_4069insGG	ENSP00000420201.2:p.Thr1357GlyfsTer7
ENST00000476777.6:c.4188_4189insGG	ENSP00000417554.2:p.Thr1397GlyfsTer7
ENST00000477152.6:c.4116_4117insGG	ENSP00000419988.2:p.Thr1373GlyfsTer7
ENST00000478531.6:c.882_883insGG	ENSP00000420412.2:p.Thr295GlyfsTer7
ENST00000489037.2:c.4116_4117insGG	ENSP00000420781.2:p.Thr1373GlyfsTer7
ENST00000493919.6:c.744_745insGG	ENSP00000418819.2:p.Thr249GlyfsTer7
ENST00000494123.6:c.4194_4195insGG	ENSP00000419103.2:p.Thr1399GlyfsTer7
ENST00000497488.2:c.3306_3307insGG	ENSP00000418986.2:p.Thr1103GlyfsTer7
ENST00000618469.2:c.4194_4195insGG	ENSP00000478114.2:p.Thr1399GlyfsTer7
ENST00000634433.2:c.4071_4072insGG	ENSP00000489431.2:p.Thr1358GlyfsTer7
ENST00000644379.2:c.4194_4195insGG	ENSP00000496570.2:p.Thr1399GlyfsTer7
ENST00000644555.2:c.744_745insGG	ENSP00000494614.2:p.Thr249GlyfsTer7
ENST00000652672.2:c.4053_4054insGG	ENSP00000498906.2:p.Thr1352GlyfsTer7
ENST00000484087.6:c.759_760insGG	ENSP00000419481.2:p.Thr254GlyfsTer7
ENST00000700182.1:c.804_805insGG	ENSP00000514849.1:p.Thr269GlyfsTer7
ENST00000357654.9:c.4194_4195insGG MANE Select	ENSP00000350283.3:p.Thr1399GlyfsTer7
ENST00000471181.7:c.4194_4195insGG	ENSP00000418960.2:p.Thr1399GlyfsTer7
ENST00000644379.1:c.515_516insGG
ENST00000352993.7:c.768_769insGG	ENSP00000312236.5:p.Thr257GlyfsTer7
ENST00000357654.7:c.4194_4195insGG	ENSP00000350283.3:p.Thr1399GlyfsTer7
ENST00000461221.5:c.*3977_*3978insGG	ENSP00000418548.1:n.*3977_*3978insGG
ENST00000461574.1:c.488_489insGG
ENST00000468300.5:c.885_886insGG	ENSP00000417148.1:p.Thr296GlyfsTer7
ENST00000471181.6:c.4194_4195insGG	ENSP00000418960.2:p.Thr1399GlyfsTer7
ENST00000478531.5:c.882_883insGG	ENSP00000420412.1:p.Thr295GlyfsTer7
ENST00000484087.5:c.507_508insGG	ENSP00000419481.1:p.Thr170GlyfsTer7
ENST00000487825.5:c.510_511insGG	ENSP00000418212.1:p.Thr171GlyfsTer7
ENST00000491747.6:c.885_886insGG	ENSP00000420705.2:p.Thr296GlyfsTer7
ENST00000493795.5:c.4053_4054insGG	ENSP00000418775.1:p.Thr1352GlyfsTer7
ENST00000493919.5:c.744_745insGG	ENSP00000418819.1:p.Thr249GlyfsTer7
ENST00000586385.5:c.5-18616_5-18615insGG	ENSP00000465818.1:n.5-18616_5-18615insGG
ENST00000591534.5:c.-43-8046_-43-8045insGG	ENSP00000467329.1:n.-43-8046_-43-8045insG...
ENST00000591849.5:c.-98-32377_-98-32376insGG	ENSP00000465347.1:n.-98-32377_-98-32376in...
ENST00000621897.1:n.88_89insGG
NM_007294.3:c.4194_4195insGG , LRG_292t1:c.4194_4195insGG	NP_009225.1:p.Thr1399GlyfsTer7
NM_007297.3:c.4053_4054insGG	NP_009228.2:p.Thr1352GlyfsTer7
NM_007298.3:c.885_886insGG	NP_009229.2:p.Thr296GlyfsTer7
NM_007299.3:c.885_886insGG	NP_009230.2:p.Thr296GlyfsTer7
NM_007300.3:c.4194_4195insGG	NP_009231.2:p.Thr1399GlyfsTer7
NR_027676.1:n.4330_4331insGG
NM_007294.4:c.4194_4195insGG MANE Select	NP_009225.1:p.Thr1399GlyfsTer7
NM_007297.4:c.4053_4054insGG	NP_009228.2:p.Thr1352GlyfsTer7
NM_007299.4:c.885_886insGG	NP_009230.2:p.Thr296GlyfsTer7
NM_007300.4:c.4194_4195insGG	NP_009231.2:p.Thr1399GlyfsTer7
NR_027676.2:n.4371_4372insGG