Canonical Allele Identifier: CA2081141900
Gene: POMP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.28659104_28659105delinsGC , CM000675.2:g.28659104_28659105delinsGC GRCh38
NC_000013.10:g.29233241_29233242delinsGC , CM000675.1:g.29233241_29233242delinsGC GRCh37
NC_000013.9:g.28131241_28131242delinsGC NCBI36
NG_027550.1:g.5101_5102delinsGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000697716.1:c.-166_-165delinsGC ENSP00000513414.1:n.-166_-165delinsGC
ENST00000380842.4:c.-81_-80delinsGC ENSP00000370222.4:n.-81_-80delinsGC
ENST00000460403.1:n.1_2delinsGC
NM_015932.5:c.-81_-80delinsGC NP_057016.1:n.-81_-80delinsGC