Canonical Allele Identifier: CA2574352242

Gene: MMACHC

Linked Data

• gnomAD v4: 1-45508127-CACACA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45508129_45508133del , CM000663.2:g.45508129_45508133del	GRCh38
NC_000001.10:g.45973801_45973805del , CM000663.1:g.45973801_45973805del	GRCh37
NC_000001.9:g.45746388_45746392del	NCBI36
NG_013378.1:g.12946_12950del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000401061.9:c.277-83_277-79del MANE Select	ENSP00000383840.4:n.277-83_277-79del
ENST00000401061.8:c.277-83_277-79del	ENSP00000383840.4:n.277-83_277-79del
ENST00000616135.1:c.106-83_106-79del	ENSP00000478859.1:n.106-83_106-79del
NM_015506.2:c.277-83_277-79del	NP_056321.2:n.277-83_277-79del
XM_005270724.3:c.82-83_82-79del	XP_005270781.1:n.82-83_82-79del
XM_011541204.1:c.106-83_106-79del	XP_011539506.1:n.106-83_106-79del
NM_001330540.1:c.106-83_106-79del	NP_001317469.1:n.106-83_106-79del
XM_005270724.5:c.82-83_82-79del	XP_005270781.1:n.82-83_82-79del
NM_015506.3:c.277-83_277-79del MANE Select	NP_056321.2:n.277-83_277-79del
NM_001330540.2:c.106-83_106-79del	NP_001317469.1:n.106-83_106-79del