Canonical Allele Identifier: CA2473783299

Gene: MMACHC

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45508101_45508102delinsCT , CM000663.2:g.45508101_45508102delinsCT	GRCh38
NC_000001.10:g.45973773_45973774delinsCT , CM000663.1:g.45973773_45973774delinsCT	GRCh37
NC_000001.9:g.45746360_45746361delinsCT	NCBI36
NG_013378.1:g.12918_12919delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000401061.9:c.277-111_277-110delinsCT MANE Select	ENSP00000383840.4:n.277-111_277-110delinsCT
ENST00000401061.8:c.277-111_277-110delinsCT	ENSP00000383840.4:n.277-111_277-110delinsCT
ENST00000616135.1:c.106-111_106-110delinsCT	ENSP00000478859.1:n.106-111_106-110delinsCT
NM_015506.2:c.277-111_277-110delinsCT	NP_056321.2:n.277-111_277-110delinsCT
XM_005270724.3:c.82-111_82-110delinsCT	XP_005270781.1:n.82-111_82-110delinsCT
XM_011541204.1:c.106-111_106-110delinsCT	XP_011539506.1:n.106-111_106-110delinsCT
NM_001330540.1:c.106-111_106-110delinsCT	NP_001317469.1:n.106-111_106-110delinsCT
XM_005270724.5:c.82-111_82-110delinsCT	XP_005270781.1:n.82-111_82-110delinsCT
NM_015506.3:c.277-111_277-110delinsCT MANE Select	NP_056321.2:n.277-111_277-110delinsCT
NM_001330540.2:c.106-111_106-110delinsCT	NP_001317469.1:n.106-111_106-110delinsCT