Canonical Allele Identifier: CA2645390784

Gene: MMACHC

Linked Data

• gnomAD v4: 1-45500532-CA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45500534del , CM000663.2:g.45500534del	GRCh38
NC_000001.10:g.45966206del , CM000663.1:g.45966206del	GRCh37
NC_000001.9:g.45738793del	NCBI36
NG_013378.1:g.5351del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000401061.9:c.81+121del MANE Select	ENSP00000383840.4:n.81+121del
ENST00000401061.8:c.81+121del	ENSP00000383840.4:n.81+121del
ENST00000616135.1:c.-91+121del	ENSP00000478859.1:n.-91+121del
NM_015506.2:c.81+121del	NP_056321.2:n.81+121del
XM_005270724.3:c.81+121del	XP_005270781.1:n.81+121del
XM_011541204.1:c.-142+121del	XP_011539506.1:n.-142+121del
NM_001330540.1:c.-142+121del	NP_001317469.1:n.-142+121del
XM_005270724.5:c.81+121del	XP_005270781.1:n.81+121del
NM_015506.3:c.81+121del MANE Select	NP_056321.2:n.81+121del
NM_001330540.2:c.-142+121del	NP_001317469.1:n.-142+121del