Canonical Allele Identifier: CA1297264141

Gene: MMADHC

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.149569653_149569657delinsGATTT , CM000664.2:g.149569653_149569657delinsGATTT	GRCh38
NC_000002.11:g.150426167_150426171delinsGATTT , CM000664.1:g.150426167_150426171delinsGATTT	GRCh37
NC_000002.10:g.150134413_150134417delinsGATTT	NCBI36
NG_009189.1:g.23160_23164delinsAAATC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303319.10:c.*317_*321delinsAAATC MANE Select	ENSP00000301920.5:n.*317_*321delinsAAATC
ENST00000303319.9:c.*317_*321delinsAAATC	ENSP00000301920.5:n.*317_*321delinsAAATC
ENST00000428879.5:c.*317_*321delinsAAATC	ENSP00000389060.1:n.*317_*321delinsAAATC
NM_015702.2:c.*317_*321delinsAAATC	NP_056517.1:n.*317_*321delinsAAATC
NM_015702.3:c.*317_*321delinsAAATC MANE Select	NP_056517.1:n.*317_*321delinsAAATC