Canonical Allele Identifier: CA1327642326

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.216028975_216028976delinsGT , CM000664.2:g.216028975_216028976delinsGT GRCh38
NC_000002.11:g.216893698_216893699delinsGT , CM000664.1:g.216893698_216893699delinsGT GRCh37
NC_000002.10:g.216601943_216601944delinsGT NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000420348.1:c.-68+3813_-68+3814delinsAC (MREG) ENSP00000404470.1:n.-68+3813_-68+3814delinsAC
ENST00000424992.5:c.-68+4986_-68+4987delinsAC (MREG) ENSP00000413302.1:n.-68+4986_-68+4987delinsAC
ENST00000439791.5:c.-68+4707_-68+4708delinsAC (MREG) ENSP00000411076.1:n.-68+4707_-68+4708delinsAC
ENST00000442122.5:c.*440+10215_*440+10216delinsAC (PECR) ENSP00000395512.1:n.*440+10215_*440+10216delinsAC
NM_001372189.1:c.-68+4986_-68+4987delinsAC (MREG) NP_001359118.1:n.-68+4986_-68+4987delinsAC
NM_001372190.1:c.-68+4707_-68+4708delinsAC (MREG) NP_001359119.1:n.-68+4707_-68+4708delinsAC