Canonical Allele Identifier: CA2586966648

Gene: MMACHC

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45509017_45509019del , CM000663.2:g.45509017_45509019del	GRCh38
NC_000001.10:g.45974689_45974691del , CM000663.1:g.45974689_45974691del	GRCh37
NC_000001.9:g.45747276_45747278del	NCBI36
NG_013378.1:g.13834_13836del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000401061.9:c.651_653del MANE Select	ENSP00000383840.4:p.Glu218del
ENST00000401061.8:c.651_653del	ENSP00000383840.4:p.Glu218del
ENST00000616135.1:c.480_482del	ENSP00000478859.1:p.Glu161del
NM_015506.2:c.651_653del	NP_056321.2:p.Glu218del
XM_005270724.3:c.456_458del	XP_005270781.1:p.Glu153del
XM_011541204.1:c.480_482del	XP_011539506.1:p.Glu161del
NM_001330540.1:c.480_482del	NP_001317469.1:p.Glu161del
XM_005270724.5:c.456_458del	XP_005270781.1:p.Glu153del
NM_015506.3:c.651_653del MANE Select	NP_056321.2:p.Glu218del
NM_001330540.2:c.480_482del	NP_001317469.1:p.Glu161del