Canonical Allele Identifier: CA2473780181

Gene: MMACHC

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45500349_45500350delinsCA , CM000663.2:g.45500349_45500350delinsCA	GRCh38
NC_000001.10:g.45966021_45966022delinsCA , CM000663.1:g.45966021_45966022delinsCA	GRCh37
NC_000001.9:g.45738608_45738609delinsCA	NCBI36
NG_013378.1:g.5166_5167delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000401061.9:c.17_18delinsCA MANE Select	ENSP00000383840.4:p.Ala6=
ENST00000401061.8:c.17_18delinsCA	ENSP00000383840.4:p.Ala6=
ENST00000616135.1:c.-155_-154delinsCA	ENSP00000478859.1:n.-155_-154delinsCA
NM_015506.2:c.17_18delinsCA	NP_056321.2:p.Ala6=
XM_005270724.3:c.17_18delinsCA	XP_005270781.1:p.Ala6=
XM_011541204.1:c.-206_-205delinsCA	XP_011539506.1:n.-206_-205delinsCA
NM_001330540.1:c.-206_-205delinsCA	NP_001317469.1:n.-206_-205delinsCA
XM_005270724.5:c.17_18delinsCA	XP_005270781.1:p.Ala6=
NM_015506.3:c.17_18delinsCA MANE Select	NP_056321.2:p.Ala6=
NM_001330540.2:c.-206_-205delinsCA	NP_001317469.1:n.-206_-205delinsCA