Canonical Allele Identifier: CA1297264175

Gene: MMADHC

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.149569742_149569743delinsGC , CM000664.2:g.149569742_149569743delinsGC	GRCh38
NC_000002.11:g.150426256_150426257delinsGC , CM000664.1:g.150426256_150426257delinsGC	GRCh37
NC_000002.10:g.150134502_150134503delinsGC	NCBI36
NG_009189.1:g.23074_23075delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303319.10:c.*231_*232delinsGC MANE Select	ENSP00000301920.5:n.*231_*232delinsGC
ENST00000303319.9:c.*231_*232delinsGC	ENSP00000301920.5:n.*231_*232delinsGC
ENST00000422782.2:c.*231_*232delinsGC	ENSP00000408331.2:n.*231_*232delinsGC
ENST00000428879.5:c.*231_*232delinsGC	ENSP00000389060.1:n.*231_*232delinsGC
NM_015702.2:c.*231_*232delinsGC	NP_056517.1:n.*231_*232delinsGC
NM_015702.3:c.*231_*232delinsGC MANE Select	NP_056517.1:n.*231_*232delinsGC