Canonical Allele Identifier: CA2473783776

Gene: MMACHC

Linked Data

• dbSNP Id: rs398124296

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45509024_45509026dup , CM000663.2:g.45509024_45509026dup	GRCh38
NC_000001.10:g.45974696_45974698dup , CM000663.1:g.45974696_45974698dup	GRCh37
NC_000001.9:g.45747283_45747285dup	NCBI36
NG_013378.1:g.13841_13843dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000401061.9:c.658_660dup MANE Select	ENSP00000383840.4:p.Lys220_Ala221insLys
ENST00000401061.8:c.658_660dup	ENSP00000383840.4:p.Lys220_Ala221insLys
ENST00000616135.1:c.487_489dup	ENSP00000478859.1:p.Lys163_Ala164insLys
NM_015506.2:c.658_660dup	NP_056321.2:p.Lys220_Ala221insLys
XM_005270724.3:c.463_465dup	XP_005270781.1:p.Lys155_Ala156insLys
XM_011541204.1:c.487_489dup	XP_011539506.1:p.Lys163_Ala164insLys
NM_001330540.1:c.487_489dup	NP_001317469.1:p.Lys163_Ala164insLys
XM_005270724.5:c.463_465dup	XP_005270781.1:p.Lys155_Ala156insLys
NM_015506.3:c.658_660dup MANE Select	NP_056321.2:p.Lys220_Ala221insLys
NM_001330540.2:c.487_489dup	NP_001317469.1:p.Lys163_Ala164insLys