Canonical Allele Identifier: CA2473780301

Gene: MMACHC

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45500646_45500648delinsCCT , CM000663.2:g.45500646_45500648delinsCCT	GRCh38
NC_000001.10:g.45966318_45966320delinsCCT , CM000663.1:g.45966318_45966320delinsCCT	GRCh37
NC_000001.9:g.45738905_45738907delinsCCT	NCBI36
NG_013378.1:g.5463_5465delinsCCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000401061.9:c.81+233_81+235delinsCCT MANE Select	ENSP00000383840.4:n.81+233_81+235delinsCCT
ENST00000401061.8:c.81+233_81+235delinsCCT	ENSP00000383840.4:n.81+233_81+235delinsCCT
ENST00000616135.1:c.-91+233_-91+235delinsCCT	ENSP00000478859.1:n.-91+233_-91+235delinsCCT
NM_015506.2:c.81+233_81+235delinsCCT	NP_056321.2:n.81+233_81+235delinsCCT
XM_005270724.3:c.81+233_81+235delinsCCT	XP_005270781.1:n.81+233_81+235delinsCCT
XM_011541204.1:c.-142+233_-142+235delinsCCT	XP_011539506.1:n.-142+233_-142+235delinsCCT
NM_001330540.1:c.-142+233_-142+235delinsCCT	NP_001317469.1:n.-142+233_-142+235delinsCCT
XM_005270724.5:c.81+233_81+235delinsCCT	XP_005270781.1:n.81+233_81+235delinsCCT
NM_015506.3:c.81+233_81+235delinsCCT MANE Select	NP_056321.2:n.81+233_81+235delinsCCT
NM_001330540.2:c.-142+233_-142+235delinsCCT	NP_001317469.1:n.-142+233_-142+235delinsCCT