Canonical Allele Identifier: CA2574352250

Gene: MMACHC

Linked Data

• gnomAD v4: 1-45508188-CCTCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45508189_45508192del , CM000663.2:g.45508189_45508192del	GRCh38
NC_000001.10:g.45973861_45973864del , CM000663.1:g.45973861_45973864del	GRCh37
NC_000001.9:g.45746448_45746451del	NCBI36
NG_013378.1:g.13006_13009del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000401061.9:c.277-23_277-20del MANE Select	ENSP00000383840.4:n.277-23_277-20del
ENST00000401061.8:c.277-23_277-20del	ENSP00000383840.4:n.277-23_277-20del
ENST00000616135.1:c.106-23_106-20del	ENSP00000478859.1:n.106-23_106-20del
NM_015506.2:c.277-23_277-20del	NP_056321.2:n.277-23_277-20del
XM_005270724.3:c.82-23_82-20del	XP_005270781.1:n.82-23_82-20del
XM_011541204.1:c.106-23_106-20del	XP_011539506.1:n.106-23_106-20del
NM_001330540.1:c.106-23_106-20del	NP_001317469.1:n.106-23_106-20del
XM_005270724.5:c.82-23_82-20del	XP_005270781.1:n.82-23_82-20del
NM_015506.3:c.277-23_277-20del MANE Select	NP_056321.2:n.277-23_277-20del
NM_001330540.2:c.106-23_106-20del	NP_001317469.1:n.106-23_106-20del