Canonical Allele Identifier: CA2473783107

Gene: MMACHC

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45507607_45507609delinsCCA , CM000663.2:g.45507607_45507609delinsCCA	GRCh38
NC_000001.10:g.45973279_45973281delinsCCA , CM000663.1:g.45973279_45973281delinsCCA	GRCh37
NC_000001.9:g.45745866_45745868delinsCCA	NCBI36
NG_013378.1:g.12424_12426delinsCCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000401061.9:c.276+57_276+59delinsCCA MANE Select	ENSP00000383840.4:n.276+57_276+59delinsCCA
ENST00000401061.8:c.276+57_276+59delinsCCA	ENSP00000383840.4:n.276+57_276+59delinsCCA
ENST00000616135.1:c.105+57_105+59delinsCCA	ENSP00000478859.1:n.105+57_105+59delinsCCA
NM_015506.2:c.276+57_276+59delinsCCA	NP_056321.2:n.276+57_276+59delinsCCA
XM_005270724.3:c.82-605_82-603delinsCCA	XP_005270781.1:n.82-605_82-603delinsCCA
XM_011541204.1:c.105+57_105+59delinsCCA	XP_011539506.1:n.105+57_105+59delinsCCA
NM_001330540.1:c.105+57_105+59delinsCCA	NP_001317469.1:n.105+57_105+59delinsCCA
XM_005270724.5:c.82-605_82-603delinsCCA	XP_005270781.1:n.82-605_82-603delinsCCA
NM_015506.3:c.276+57_276+59delinsCCA MANE Select	NP_056321.2:n.276+57_276+59delinsCCA
NM_001330540.2:c.105+57_105+59delinsCCA	NP_001317469.1:n.105+57_105+59delinsCCA