Canonical Allele Identifier: CA2473783533

Gene: MMACHC

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45508592_45508595delinsGTTA , CM000663.2:g.45508592_45508595delinsGTTA	GRCh38
NC_000001.10:g.45974264_45974267delinsGTTA , CM000663.1:g.45974264_45974267delinsGTTA	GRCh37
NC_000001.9:g.45746851_45746854delinsGTTA	NCBI36
NG_013378.1:g.13409_13412delinsGTTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000401061.9:c.430-204_430-201delinsGTTA MANE Select	ENSP00000383840.4:n.430-204_430-201delinsGTTA
ENST00000401061.8:c.430-204_430-201delinsGTTA	ENSP00000383840.4:n.430-204_430-201delinsGTTA
ENST00000616135.1:c.259-204_259-201delinsGTTA	ENSP00000478859.1:n.259-204_259-201delinsGTTA
NM_015506.2:c.430-204_430-201delinsGTTA	NP_056321.2:n.430-204_430-201delinsGTTA
XM_005270724.3:c.235-204_235-201delinsGTTA	XP_005270781.1:n.235-204_235-201delinsGTTA
XM_011541204.1:c.259-204_259-201delinsGTTA	XP_011539506.1:n.259-204_259-201delinsGTTA
NM_001330540.1:c.259-204_259-201delinsGTTA	NP_001317469.1:n.259-204_259-201delinsGTTA
XM_005270724.5:c.235-204_235-201delinsGTTA	XP_005270781.1:n.235-204_235-201delinsGTTA
NM_015506.3:c.430-204_430-201delinsGTTA MANE Select	NP_056321.2:n.430-204_430-201delinsGTTA
NM_001330540.2:c.259-204_259-201delinsGTTA	NP_001317469.1:n.259-204_259-201delinsGTTA