Canonical Allele Identifier: CA2739272545

Gene: MMACHC

Linked Data

• ClinVar Variation Id: 2789848
• ClinVar RCV Id: RCV003600694

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45508377del , CM000663.2:g.45508377del	GRCh38
NC_000001.10:g.45974049del , CM000663.1:g.45974049del	GRCh37
NC_000001.9:g.45746636del	NCBI36
NG_013378.1:g.13194del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000401061.9:c.429+13del MANE Select	ENSP00000383840.4:n.429+13del
ENST00000401061.8:c.429+13del	ENSP00000383840.4:n.429+13del
ENST00000616135.1:c.258+13del	ENSP00000478859.1:n.258+13del
NM_015506.2:c.429+13del	NP_056321.2:n.429+13del
XM_005270724.3:c.234+13del	XP_005270781.1:n.234+13del
XM_011541204.1:c.258+13del	XP_011539506.1:n.258+13del
NM_001330540.1:c.258+13del	NP_001317469.1:n.258+13del
XM_005270724.5:c.234+13del	XP_005270781.1:n.234+13del
NM_015506.3:c.429+13del MANE Select	NP_056321.2:n.429+13del
NM_001330540.2:c.258+13del	NP_001317469.1:n.258+13del