Canonical Allele Identifier: CA2473783564

Gene: MMACHC

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45508628_45508629delinsTC , CM000663.2:g.45508628_45508629delinsTC	GRCh38
NC_000001.10:g.45974300_45974301delinsTC , CM000663.1:g.45974300_45974301delinsTC	GRCh37
NC_000001.9:g.45746887_45746888delinsTC	NCBI36
NG_013378.1:g.13445_13446delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000401061.9:c.430-168_430-167delinsTC MANE Select	ENSP00000383840.4:n.430-168_430-167delinsTC
ENST00000401061.8:c.430-168_430-167delinsTC	ENSP00000383840.4:n.430-168_430-167delinsTC
ENST00000616135.1:c.259-168_259-167delinsTC	ENSP00000478859.1:n.259-168_259-167delinsTC
NM_015506.2:c.430-168_430-167delinsTC	NP_056321.2:n.430-168_430-167delinsTC
XM_005270724.3:c.235-168_235-167delinsTC	XP_005270781.1:n.235-168_235-167delinsTC
XM_011541204.1:c.259-168_259-167delinsTC	XP_011539506.1:n.259-168_259-167delinsTC
NM_001330540.1:c.259-168_259-167delinsTC	NP_001317469.1:n.259-168_259-167delinsTC
XM_005270724.5:c.235-168_235-167delinsTC	XP_005270781.1:n.235-168_235-167delinsTC
NM_015506.3:c.430-168_430-167delinsTC MANE Select	NP_056321.2:n.430-168_430-167delinsTC
NM_001330540.2:c.259-168_259-167delinsTC	NP_001317469.1:n.259-168_259-167delinsTC