Canonical Allele Identifier: CA2743432180

Gene: MMACHC

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45508157_45508269dup , CM000663.2:g.45508157_45508269dup	GRCh38
NC_000001.10:g.45973829_45973941dup , CM000663.1:g.45973829_45973941dup	GRCh37
NC_000001.9:g.45746416_45746528dup	NCBI36
NG_013378.1:g.12974_13086dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000401061.9:c.277-55_334dup
ENST00000401061.8:c.277-55_334dup
ENST00000616135.1:c.106-55_163dup
NM_015506.2:c.277-55_334dup
XM_005270724.3:c.82-55_139dup
XM_011541204.1:c.106-55_163dup
NM_001330540.1:c.106-55_163dup
XM_005270724.5:c.82-55_139dup
NM_015506.3:c.277-55_334dup
NM_001330540.2:c.106-55_163dup