Canonical Allele Identifier: CA2473780333

Gene: MMACHC

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45500731_45500735delinsGTGCA , CM000663.2:g.45500731_45500735delinsGTGCA	GRCh38
NC_000001.10:g.45966403_45966407delinsGTGCA , CM000663.1:g.45966403_45966407delinsGTGCA	GRCh37
NC_000001.9:g.45738990_45738994delinsGTGCA	NCBI36
NG_013378.1:g.5548_5552delinsGTGCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000401061.9:c.81+318_81+322delinsGTGCA MANE Select	ENSP00000383840.4:n.81+318_81+322delinsGTGCA
ENST00000401061.8:c.81+318_81+322delinsGTGCA	ENSP00000383840.4:n.81+318_81+322delinsGTGCA
ENST00000616135.1:c.-91+318_-91+322delinsGTGCA	ENSP00000478859.1:n.-91+318_-91+322delinsGTGCA
NM_015506.2:c.81+318_81+322delinsGTGCA	NP_056321.2:n.81+318_81+322delinsGTGCA
XM_005270724.3:c.81+318_81+322delinsGTGCA	XP_005270781.1:n.81+318_81+322delinsGTGCA
XM_011541204.1:c.-142+318_-142+322delinsGTGCA	XP_011539506.1:n.-142+318_-142+322delinsGTGCA
NM_001330540.1:c.-142+318_-142+322delinsGTGCA	NP_001317469.1:n.-142+318_-142+322delinsGTGCA
XM_005270724.5:c.81+318_81+322delinsGTGCA	XP_005270781.1:n.81+318_81+322delinsGTGCA
NM_015506.3:c.81+318_81+322delinsGTGCA MANE Select	NP_056321.2:n.81+318_81+322delinsGTGCA
NM_001330540.2:c.-142+318_-142+322delinsGTGCA	NP_001317469.1:n.-142+318_-142+322delinsGTGCA