Canonical Allele Identifier: CA1297264408
Gene: MMADHC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.149570278_149570282delinsCTAAA , CM000664.2:g.149570278_149570282delinsCTAAA GRCh38
NC_000002.11:g.150426792_150426796delinsCTAAA , CM000664.1:g.150426792_150426796delinsCTAAA GRCh37
NC_000002.10:g.150135038_150135042delinsCTAAA NCBI36
NG_009189.1:g.22535_22539delinsTTTAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000303319.10:c.697-114_697-110delinsTTTAG MANE Select ENSP00000301920.5:n.697-114_697-110delinsTTTAG
ENST00000303319.9:c.697-114_697-110delinsTTTAG ENSP00000301920.5:n.697-114_697-110delinsTTTAG
ENST00000422782.2:c.799-114_799-110delinsTTTAG ENSP00000408331.2:n.799-114_799-110delinsTTTAG
ENST00000428879.5:c.697-114_697-110delinsTTTAG ENSP00000389060.1:n.697-114_697-110delinsTTTAG
NM_015702.2:c.697-114_697-110delinsTTTAG NP_056517.1:n.697-114_697-110delinsTTTAG
NM_015702.3:c.697-114_697-110delinsTTTAG MANE Select NP_056517.1:n.697-114_697-110delinsTTTAG