Canonical Allele Identifier: CA2586966628

Gene: MMACHC

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45500389dup , CM000663.2:g.45500389dup	GRCh38
NC_000001.10:g.45966061dup , CM000663.1:g.45966061dup	GRCh37
NC_000001.9:g.45738648dup	NCBI36
NG_013378.1:g.5206dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000401061.9:c.57dup MANE Select	ENSP00000383840.4:p.Gly20TrpfsTer14
ENST00000401061.8:c.57dup	ENSP00000383840.4:p.Gly20TrpfsTer14
ENST00000616135.1:c.-115dup	ENSP00000478859.1:n.-115dup
NM_015506.2:c.57dup	NP_056321.2:p.Gly20TrpfsTer14
XM_005270724.3:c.57dup	XP_005270781.1:p.Gly20TrpfsTer20
XM_011541204.1:c.-166dup	XP_011539506.1:n.-166dup
NM_001330540.1:c.-166dup	NP_001317469.1:n.-166dup
XM_005270724.5:c.57dup	XP_005270781.1:p.Gly20TrpfsTer20
NM_015506.3:c.57dup MANE Select	NP_056321.2:p.Gly20TrpfsTer14
NM_001330540.2:c.-166dup	NP_001317469.1:n.-166dup