Canonical Allele Identifier: CA2645390997

Gene: MMACHC

Linked Data

• gnomAD v4: 1-45508666-GA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45508670del , CM000663.2:g.45508670del	GRCh38
NC_000001.10:g.45974342del , CM000663.1:g.45974342del	GRCh37
NC_000001.9:g.45746929del	NCBI36
NG_013378.1:g.13487del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000401061.9:c.430-126del MANE Select	ENSP00000383840.4:n.430-126del
ENST00000401061.8:c.430-126del	ENSP00000383840.4:n.430-126del
ENST00000616135.1:c.259-126del	ENSP00000478859.1:n.259-126del
NM_015506.2:c.430-126del	NP_056321.2:n.430-126del
XM_005270724.3:c.235-126del	XP_005270781.1:n.235-126del
XM_011541204.1:c.259-126del	XP_011539506.1:n.259-126del
NM_001330540.1:c.259-126del	NP_001317469.1:n.259-126del
XM_005270724.5:c.235-126del	XP_005270781.1:n.235-126del
NM_015506.3:c.430-126del MANE Select	NP_056321.2:n.430-126del
NM_001330540.2:c.259-126del	NP_001317469.1:n.259-126del