Canonical Allele Identifier: CA2752638733

Gene: MMADHC

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.149569695_149569706del , CM000664.2:g.149569695_149569706del	GRCh38
NC_000002.11:g.150426209_150426220del , CM000664.1:g.150426209_150426220del	GRCh37
NC_000002.10:g.150134455_150134466del	NCBI36
NG_009189.1:g.23111_23122del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303319.10:c.*268_*279del MANE Select	ENSP00000301920.5:n.*268_*279del
ENST00000303319.9:c.*268_*279del	ENSP00000301920.5:n.*268_*279del
ENST00000422782.2:c.*268_*279del	ENSP00000408331.2:n.*268_*279del
ENST00000428879.5:c.*268_*279del	ENSP00000389060.1:n.*268_*279del
NM_015702.2:c.*268_*279del	NP_056517.1:n.*268_*279del
NM_015702.3:c.*268_*279del MANE Select	NP_056517.1:n.*268_*279del