Canonical Allele Identifier: CA2586966634

Gene: MMACHC

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45508209_45508238del , CM000663.2:g.45508209_45508238del	GRCh38
NC_000001.10:g.45973881_45973910del , CM000663.1:g.45973881_45973910del	GRCh37
NC_000001.9:g.45746468_45746497del	NCBI36
NG_013378.1:g.13026_13055del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000401061.9:c.277-3_303del
ENST00000401061.8:c.277-3_303del
ENST00000616135.1:c.106-3_132del
NM_015506.2:c.277-3_303del
XM_005270724.3:c.82-3_108del
XM_011541204.1:c.106-3_132del
NM_001330540.1:c.106-3_132del
XM_005270724.5:c.82-3_108del
NM_015506.3:c.277-3_303del
NM_001330540.2:c.106-3_132del