Canonical Allele Identifier: CA2473783470

Gene: MMACHC

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45508472_45508473delinsCA , CM000663.2:g.45508472_45508473delinsCA	GRCh38
NC_000001.10:g.45974144_45974145delinsCA , CM000663.1:g.45974144_45974145delinsCA	GRCh37
NC_000001.9:g.45746731_45746732delinsCA	NCBI36
NG_013378.1:g.13289_13290delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000401061.9:c.429+108_429+109delinsCA MANE Select	ENSP00000383840.4:n.429+108_429+109delinsCA
ENST00000401061.8:c.429+108_429+109delinsCA	ENSP00000383840.4:n.429+108_429+109delinsCA
ENST00000616135.1:c.258+108_258+109delinsCA	ENSP00000478859.1:n.258+108_258+109delinsCA
NM_015506.2:c.429+108_429+109delinsCA	NP_056321.2:n.429+108_429+109delinsCA
XM_005270724.3:c.234+108_234+109delinsCA	XP_005270781.1:n.234+108_234+109delinsCA
XM_011541204.1:c.258+108_258+109delinsCA	XP_011539506.1:n.258+108_258+109delinsCA
NM_001330540.1:c.258+108_258+109delinsCA	NP_001317469.1:n.258+108_258+109delinsCA
XM_005270724.5:c.234+108_234+109delinsCA	XP_005270781.1:n.234+108_234+109delinsCA
NM_015506.3:c.429+108_429+109delinsCA MANE Select	NP_056321.2:n.429+108_429+109delinsCA
NM_001330540.2:c.258+108_258+109delinsCA	NP_001317469.1:n.258+108_258+109delinsCA