Canonical Allele Identifier: CA2473783274

Gene: MMACHC

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45508039_45508040delinsCT , CM000663.2:g.45508039_45508040delinsCT	GRCh38
NC_000001.10:g.45973711_45973712delinsCT , CM000663.1:g.45973711_45973712delinsCT	GRCh37
NC_000001.9:g.45746298_45746299delinsCT	NCBI36
NG_013378.1:g.12856_12857delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000401061.9:c.277-173_277-172delinsCT MANE Select	ENSP00000383840.4:n.277-173_277-172delinsCT
ENST00000401061.8:c.277-173_277-172delinsCT	ENSP00000383840.4:n.277-173_277-172delinsCT
ENST00000616135.1:c.106-173_106-172delinsCT	ENSP00000478859.1:n.106-173_106-172delinsCT
NM_015506.2:c.277-173_277-172delinsCT	NP_056321.2:n.277-173_277-172delinsCT
XM_005270724.3:c.82-173_82-172delinsCT	XP_005270781.1:n.82-173_82-172delinsCT
XM_011541204.1:c.106-173_106-172delinsCT	XP_011539506.1:n.106-173_106-172delinsCT
NM_001330540.1:c.106-173_106-172delinsCT	NP_001317469.1:n.106-173_106-172delinsCT
XM_005270724.5:c.82-173_82-172delinsCT	XP_005270781.1:n.82-173_82-172delinsCT
NM_015506.3:c.277-173_277-172delinsCT MANE Select	NP_056321.2:n.277-173_277-172delinsCT
NM_001330540.2:c.106-173_106-172delinsCT	NP_001317469.1:n.106-173_106-172delinsCT