Canonical Allele Identifier: CA1297264336

Gene: MMADHC

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.149570135_149570137delinsCAA , CM000664.2:g.149570135_149570137delinsCAA	GRCh38
NC_000002.11:g.150426649_150426651delinsCAA , CM000664.1:g.150426649_150426651delinsCAA	GRCh37
NC_000002.10:g.150134895_150134897delinsCAA	NCBI36
NG_009189.1:g.22680_22682delinsTTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303319.10:c.728_730delinsTTG MANE Select	ENSP00000301920.5:p.Phe243=
ENST00000303319.9:c.728_730delinsTTG	ENSP00000301920.5:p.Phe243=
ENST00000422782.2:c.830_832delinsTTG	ENSP00000408331.2:p.Phe277=
ENST00000428879.5:c.728_730delinsTTG	ENSP00000389060.1:p.Phe243=
NM_015702.2:c.728_730delinsTTG	NP_056517.1:p.Phe243=
NM_015702.3:c.728_730delinsTTG MANE Select	NP_056517.1:p.Phe243=