Canonical Allele Identifier: CA2473783755

Gene: MMACHC

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45508989_45508991delinsCTG , CM000663.2:g.45508989_45508991delinsCTG	GRCh38
NC_000001.10:g.45974661_45974663delinsCTG , CM000663.1:g.45974661_45974663delinsCTG	GRCh37
NC_000001.9:g.45747248_45747250delinsCTG	NCBI36
NG_013378.1:g.13806_13808delinsCTG

Transcript Alleles

HGVS	Amino-acid change
ENST00000401061.9:c.623_625delinsCTG MANE Select	ENSP00000383840.4:p.Ala208=
ENST00000401061.8:c.623_625delinsCTG	ENSP00000383840.4:p.Ala208=
ENST00000616135.1:c.452_454delinsCTG	ENSP00000478859.1:p.Ala151=
NM_015506.2:c.623_625delinsCTG	NP_056321.2:p.Ala208=
XM_005270724.3:c.428_430delinsCTG	XP_005270781.1:p.Ala143=
XM_011541204.1:c.452_454delinsCTG	XP_011539506.1:p.Ala151=
NM_001330540.1:c.452_454delinsCTG	NP_001317469.1:p.Ala151=
XM_005270724.5:c.428_430delinsCTG	XP_005270781.1:p.Ala143=
NM_015506.3:c.623_625delinsCTG MANE Select	NP_056321.2:p.Ala208=
NM_001330540.2:c.452_454delinsCTG	NP_001317469.1:p.Ala151=