Canonical Allele Identifier: CA1902245

Gene: MMADHC

Linked Data

• dbSNP Id: rs769100943
• ExAC: 2:150426503 T / TTTC
• gnomAD v2: 2-150426503-T-TTTC
• MyVariant Identifiers: chr2:g.150426503_150426504insTTC (hg19) ; chr2:g.149569989_149569990insTTC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.149569993_149569995dup , CM000664.2:g.149569993_149569995dup	GRCh38
NC_000002.11:g.150426507_150426509dup , CM000664.1:g.150426507_150426509dup	GRCh37
NC_000002.10:g.150134753_150134755dup	NCBI36
NG_009189.1:g.22825_22827dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303319.10:c.873_875dup MANE Select	ENSP00000301920.5:p.Lys292_Leu293insLys
ENST00000303319.9:c.873_875dup	ENSP00000301920.5:p.Lys292_Leu293insLys
ENST00000422782.2:c.975_977dup	ENSP00000408331.2:p.Lys326_Leu327insLys
ENST00000428879.5:c.873_875dup	ENSP00000389060.1:p.Lys292_Leu293insLys
NM_015702.2:c.873_875dup	NP_056517.1:p.Lys292_Leu293insLys
NM_015702.3:c.873_875dup MANE Select	NP_056517.1:p.Lys292_Leu293insLys