Canonical Allele Identifier: CA2586966645

Gene: MMACHC

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45508936_45508937insT , CM000663.2:g.45508936_45508937insT	GRCh38
NC_000001.10:g.45974608_45974609insT , CM000663.1:g.45974608_45974609insT	GRCh37
NC_000001.9:g.45747195_45747196insT	NCBI36
NG_013378.1:g.13753_13754insT

Transcript Alleles

HGVS	Amino-acid change
ENST00000401061.9:c.570_571insT MANE Select	ENSP00000383840.4:p.Ala191CysfsTer12
ENST00000401061.8:c.570_571insT	ENSP00000383840.4:p.Ala191CysfsTer12
ENST00000616135.1:c.399_400insT	ENSP00000478859.1:p.Ala134CysfsTer12
NM_015506.2:c.570_571insT	NP_056321.2:p.Ala191CysfsTer12
XM_005270724.3:c.375_376insT	XP_005270781.1:p.Ala126CysfsTer12
XM_011541204.1:c.399_400insT	XP_011539506.1:p.Ala134CysfsTer12
NM_001330540.1:c.399_400insT	NP_001317469.1:p.Ala134CysfsTer12
XM_005270724.5:c.375_376insT	XP_005270781.1:p.Ala126CysfsTer12
NM_015506.3:c.570_571insT MANE Select	NP_056321.2:p.Ala191CysfsTer12
NM_001330540.2:c.399_400insT	NP_001317469.1:p.Ala134CysfsTer12