Canonical Allele Identifier: CA3273046929
Community Standard Title: NM_007294.4(BRCA1):c.5453_5454delinsTT (p.Asp1818Val)
Gene: BRCA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43047656_43047657delinsAA , CM000679.2:g.43047656_43047657delinsAA GRCh38
NC_000017.10:g.41199673_41199674delinsAA , CM000679.1:g.41199673_41199674delinsAA GRCh37
NC_000017.9:g.38453199_38453200delinsAA NCBI36
NG_005905.2:g.170327_170328delinsTT , LRG_292:g.170327_170328delinsTT

Transcript Alleles

HGVS Amino-acid Change
NM_007294.4:c.5453_5454delinsTT MANE Select NP_009225.1:p.Asp1818Val
ENST00000357654.9:c.5453_5454delinsTT MANE Select ENSP00000350283.3:p.Asp1818Val
NM_007294.3:c.5453_5454delinsTT , LRG_292t1:c.5453_5454delinsTT NP_009225.1:p.Asp1818Val
NM_007297.3:c.5312_5313delinsTT NP_009228.2:p.Asp1771Val
NM_007297.4:c.5312_5313delinsTT NP_009228.2:p.Asp1771Val
NM_007298.3:c.2141_2142delinsTT NP_009229.2:p.Asp714Val
NM_007299.3:c.2067_2068delinsTT NP_009230.2:p.Gly690Ter
NM_007299.4:c.2067_2068delinsTT NP_009230.2:p.Gly690Ter
NM_007300.3:c.5516_5517delinsTT NP_009231.2:p.Asp1839Val
NM_007300.4:c.5516_5517delinsTT NP_009231.2:p.Asp1839Val
NR_027676.1:n.5589_5590delinsTT
NR_027676.2:n.5630_5631delinsTT
ENST00000352993.7:c.2027_2028delinsTT ENSP00000312236.5:p.Asp676Val
ENST00000357654.7:c.5453_5454delinsTT ENSP00000350283.3:p.Asp1818Val
ENST00000461221.5:c.*5236_*5237delinsTT ENSP00000418548.1:n.*5236_*5237delinsTT
ENST00000461574.2:c.5450_5451delinsTT ENSP00000417241.2:p.Asp1817Val
ENST00000468300.5:c.2067_2068delinsTT ENSP00000417148.1:p.Gly690Ter
ENST00000470026.6:c.5453_5454delinsTT ENSP00000419274.2:p.Asp1818Val
ENST00000471181.6:c.5516_5517delinsTT ENSP00000418960.2:p.Asp1839Val
ENST00000471181.7:c.5516_5517delinsTT ENSP00000418960.2:p.Asp1839Val
ENST00000473961.6:c.5327_5328delinsTT ENSP00000420201.2:p.Asp1776Val
ENST00000476777.6:c.5447_5448delinsTT ENSP00000417554.2:p.Asp1816Val
ENST00000477152.6:c.5375_5376delinsTT ENSP00000419988.2:p.Asp1792Val
ENST00000478531.6:c.2141_2142delinsTT ENSP00000420412.2:p.Asp714Val
ENST00000484087.6:c.2015_2016delinsTT ENSP00000419481.2:p.Asp672Val
ENST00000489037.2:c.5375_5376delinsTT ENSP00000420781.2:p.Asp1792Val
ENST00000491747.6:c.2141_2142delinsTT ENSP00000420705.2:p.Asp714Val
ENST00000493795.5:c.5312_5313delinsTT ENSP00000418775.1:p.Asp1771Val
ENST00000493919.6:c.2003_2004delinsTT ENSP00000418819.2:p.Asp668Val
ENST00000494123.6:c.5453_5454delinsTT ENSP00000419103.2:p.Asp1818Val
ENST00000497488.2:c.4565_4566delinsTT ENSP00000418986.2:p.Asp1522Val
ENST00000586385.5:c.383_384delinsTT ENSP00000465818.1:p.Asp128Val
ENST00000591534.5:c.926_927delinsTT ENSP00000467329.1:p.Asp309Val
ENST00000591849.5:c.152_153delinsTT ENSP00000465347.1:p.Asp51Val
ENST00000618469.2:c.5453_5454delinsTT ENSP00000478114.2:p.Asp1818Val
ENST00000634433.2:c.5330_5331delinsTT ENSP00000489431.2:p.Asp1777Val
ENST00000644379.1:c.1840_1841delinsTT
ENST00000644379.2:c.5519_5520delinsTT ENSP00000496570.2:p.Asp1840Val
ENST00000644555.2:c.2003_2004delinsTT ENSP00000494614.2:p.Asp668Val
ENST00000652672.2:c.5312_5313delinsTT ENSP00000498906.2:p.Asp1771Val
ENST00000700081.1:n.1336_1337delinsTT
ENST00000700082.1:n.817_818delinsTT