Canonical Allele Identifier: CA2577116951

Gene: MMADHC

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.149570252_149570256del , CM000664.2:g.149570252_149570256del	GRCh38
NC_000002.11:g.150426766_150426770del , CM000664.1:g.150426766_150426770del	GRCh37
NC_000002.10:g.150135012_150135016del	NCBI36
NG_009189.1:g.22563_22567del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303319.10:c.697-86_697-82del MANE Select	ENSP00000301920.5:n.697-86_697-82del
ENST00000303319.9:c.697-86_697-82del	ENSP00000301920.5:n.697-86_697-82del
ENST00000422782.2:c.799-86_799-82del	ENSP00000408331.2:n.799-86_799-82del
ENST00000428879.5:c.697-86_697-82del	ENSP00000389060.1:n.697-86_697-82del
NM_015702.2:c.697-86_697-82del	NP_056517.1:n.697-86_697-82del
NM_015702.3:c.697-86_697-82del MANE Select	NP_056517.1:n.697-86_697-82del