Canonical Allele Identifier: CA3273046924
Community Standard Title: NM_007294.4(BRCA1):c.5453_5454delinsCG (p.Asp1818Ala)
Gene: BRCA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43047656_43047657delinsCG , CM000679.2:g.43047656_43047657delinsCG GRCh38
NC_000017.10:g.41199673_41199674delinsCG , CM000679.1:g.41199673_41199674delinsCG GRCh37
NC_000017.9:g.38453199_38453200delinsCG NCBI36
NG_005905.2:g.170327_170328delinsCG , LRG_292:g.170327_170328delinsCG

Transcript Alleles

HGVS Amino-acid Change
NM_007294.4:c.5453_5454delinsCG MANE Select NP_009225.1:p.Asp1818Ala
ENST00000357654.9:c.5453_5454delinsCG MANE Select ENSP00000350283.3:p.Asp1818Ala
NM_007294.3:c.5453_5454delinsCG , LRG_292t1:c.5453_5454delinsCG NP_009225.1:p.Asp1818Ala
NM_007297.3:c.5312_5313delinsCG NP_009228.2:p.Asp1771Ala
NM_007297.4:c.5312_5313delinsCG NP_009228.2:p.Asp1771Ala
NM_007298.3:c.2141_2142delinsCG NP_009229.2:p.Asp714Ala
NM_007299.3:c.2067_2068delinsCG NP_009230.2:p.Gln690Glu
NM_007299.4:c.2067_2068delinsCG NP_009230.2:p.Gln690Glu
NM_007300.3:c.5516_5517delinsCG NP_009231.2:p.Asp1839Ala
NM_007300.4:c.5516_5517delinsCG NP_009231.2:p.Asp1839Ala
NR_027676.1:n.5589_5590delinsCG
NR_027676.2:n.5630_5631delinsCG
ENST00000352993.7:c.2027_2028delinsCG ENSP00000312236.5:p.Asp676Ala
ENST00000357654.7:c.5453_5454delinsCG ENSP00000350283.3:p.Asp1818Ala
ENST00000461221.5:c.*5236_*5237delinsCG ENSP00000418548.1:n.*5236_*5237delinsCG
ENST00000461574.2:c.5450_5451delinsCG ENSP00000417241.2:p.Asp1817Ala
ENST00000468300.5:c.2067_2068delinsCG ENSP00000417148.1:p.Gln690Glu
ENST00000470026.6:c.5453_5454delinsCG ENSP00000419274.2:p.Asp1818Ala
ENST00000471181.6:c.5516_5517delinsCG ENSP00000418960.2:p.Asp1839Ala
ENST00000471181.7:c.5516_5517delinsCG ENSP00000418960.2:p.Asp1839Ala
ENST00000473961.6:c.5327_5328delinsCG ENSP00000420201.2:p.Asp1776Ala
ENST00000476777.6:c.5447_5448delinsCG ENSP00000417554.2:p.Asp1816Ala
ENST00000477152.6:c.5375_5376delinsCG ENSP00000419988.2:p.Asp1792Ala
ENST00000478531.6:c.2141_2142delinsCG ENSP00000420412.2:p.Asp714Ala
ENST00000484087.6:c.2015_2016delinsCG ENSP00000419481.2:p.Asp672Ala
ENST00000489037.2:c.5375_5376delinsCG ENSP00000420781.2:p.Asp1792Ala
ENST00000491747.6:c.2141_2142delinsCG ENSP00000420705.2:p.Asp714Ala
ENST00000493795.5:c.5312_5313delinsCG ENSP00000418775.1:p.Asp1771Ala
ENST00000493919.6:c.2003_2004delinsCG ENSP00000418819.2:p.Asp668Ala
ENST00000494123.6:c.5453_5454delinsCG ENSP00000419103.2:p.Asp1818Ala
ENST00000497488.2:c.4565_4566delinsCG ENSP00000418986.2:p.Asp1522Ala
ENST00000586385.5:c.383_384delinsCG ENSP00000465818.1:p.Asp128Ala
ENST00000591534.5:c.926_927delinsCG ENSP00000467329.1:p.Asp309Ala
ENST00000591849.5:c.152_153delinsCG ENSP00000465347.1:p.Asp51Ala
ENST00000618469.2:c.5453_5454delinsCG ENSP00000478114.2:p.Asp1818Ala
ENST00000634433.2:c.5330_5331delinsCG ENSP00000489431.2:p.Asp1777Ala
ENST00000644379.1:c.1840_1841delinsCG
ENST00000644379.2:c.5519_5520delinsCG ENSP00000496570.2:p.Asp1840Ala
ENST00000644555.2:c.2003_2004delinsCG ENSP00000494614.2:p.Asp668Ala
ENST00000652672.2:c.5312_5313delinsCG ENSP00000498906.2:p.Asp1771Ala
ENST00000700081.1:n.1336_1337delinsCG
ENST00000700082.1:n.817_818delinsCG