Canonical Allele Identifier: CA1327642301

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.216028924_216028925delinsGA , CM000664.2:g.216028924_216028925delinsGA GRCh38
NC_000002.11:g.216893647_216893648delinsGA , CM000664.1:g.216893647_216893648delinsGA GRCh37
NC_000002.10:g.216601892_216601893delinsGA NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000420348.1:c.-68+3864_-68+3865delinsTC (MREG) ENSP00000404470.1:n.-68+3864_-68+3865deli...
ENST00000424992.5:c.-68+5037_-68+5038delinsTC (MREG) ENSP00000413302.1:n.-68+5037_-68+5038deli...
ENST00000439791.5:c.-68+4758_-68+4759delinsTC (MREG) ENSP00000411076.1:n.-68+4758_-68+4759deli...
ENST00000442122.5:c.*440+10266_*440+10267delinsTC (PECR) ENSP00000395512.1:n.*440+10266_*440+10267...
NM_001372189.1:c.-68+5037_-68+5038delinsTC (MREG) NP_001359118.1:n.-68+5037_-68+5038delinsT...
NM_001372190.1:c.-68+4758_-68+4759delinsTC (MREG) NP_001359119.1:n.-68+4758_-68+4759delinsT...