Canonical Allele Identifier: CA223197

Gene: MMACHC

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45509024_45509026del , CM000663.2:g.45509024_45509026del	GRCh38
NC_000001.10:g.45974696_45974698del , CM000663.1:g.45974696_45974698del	GRCh37
NC_000001.9:g.45747283_45747285del	NCBI36
NG_013378.1:g.13841_13843del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000401061.9:c.658_660del MANE Select	ENSP00000383840.4:p.Lys220del
ENST00000401061.8:c.658_660del	ENSP00000383840.4:p.Lys220del
ENST00000616135.1:c.487_489del	ENSP00000478859.1:p.Lys163del
NM_015506.2:c.658_660del	NP_056321.2:p.Lys220del
XM_005270724.3:c.463_465del	XP_005270781.1:p.Lys155del
XM_011541204.1:c.487_489del	XP_011539506.1:p.Lys163del
NM_001330540.1:c.487_489del	NP_001317469.1:p.Lys163del
XM_005270724.5:c.463_465del	XP_005270781.1:p.Lys155del
NM_015506.3:c.658_660del MANE Select	NP_056321.2:p.Lys220del
NM_001330540.2:c.487_489del	NP_001317469.1:p.Lys163del