Canonical Allele Identifier: CA2473783602

Gene: MMACHC

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45508698_45508700delinsACT , CM000663.2:g.45508698_45508700delinsACT	GRCh38
NC_000001.10:g.45974370_45974372delinsACT , CM000663.1:g.45974370_45974372delinsACT	GRCh37
NC_000001.9:g.45746957_45746959delinsACT	NCBI36
NG_013378.1:g.13515_13517delinsACT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000401061.9:c.430-98_430-96delinsACT MANE Select	ENSP00000383840.4:n.430-98_430-96delinsACT
ENST00000401061.8:c.430-98_430-96delinsACT	ENSP00000383840.4:n.430-98_430-96delinsACT
ENST00000616135.1:c.259-98_259-96delinsACT	ENSP00000478859.1:n.259-98_259-96delinsACT
NM_015506.2:c.430-98_430-96delinsACT	NP_056321.2:n.430-98_430-96delinsACT
XM_005270724.3:c.235-98_235-96delinsACT	XP_005270781.1:n.235-98_235-96delinsACT
XM_011541204.1:c.259-98_259-96delinsACT	XP_011539506.1:n.259-98_259-96delinsACT
NM_001330540.1:c.259-98_259-96delinsACT	NP_001317469.1:n.259-98_259-96delinsACT
XM_005270724.5:c.235-98_235-96delinsACT	XP_005270781.1:n.235-98_235-96delinsACT
NM_015506.3:c.430-98_430-96delinsACT MANE Select	NP_056321.2:n.430-98_430-96delinsACT
NM_001330540.2:c.259-98_259-96delinsACT	NP_001317469.1:n.259-98_259-96delinsACT