Canonical Allele Identifier: CA1327642296

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.216028899_216028903delinsTAAAG , CM000664.2:g.216028899_216028903delinsTAAAG GRCh38
NC_000002.11:g.216893622_216893626delinsTAAAG , CM000664.1:g.216893622_216893626delinsTAAAG GRCh37
NC_000002.10:g.216601867_216601871delinsTAAAG NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000420348.1:c.-68+3886_-68+3890delinsCTTTA (MREG) ENSP00000404470.1:n.-68+3886_-68+3890delinsCTTTA
ENST00000424992.5:c.-68+5059_-68+5063delinsCTTTA (MREG) ENSP00000413302.1:n.-68+5059_-68+5063delinsCTTTA
ENST00000439791.5:c.-68+4780_-68+4784delinsCTTTA (MREG) ENSP00000411076.1:n.-68+4780_-68+4784delinsCTTTA
ENST00000442122.5:c.*440+10288_*440+10292delinsCTTTA (PECR) ENSP00000395512.1:n.*440+10288_*440+10292delinsCTTTA
NM_001372189.1:c.-68+5059_-68+5063delinsCTTTA (MREG) NP_001359118.1:n.-68+5059_-68+5063delinsCTTTA
NM_001372190.1:c.-68+4780_-68+4784delinsCTTTA (MREG) NP_001359119.1:n.-68+4780_-68+4784delinsCTTTA