Canonical Allele Identifier: CA2739272541
Gene: MMACHC HGNC NCBI

Linked Data

ClinVar Variation Id: 2837080
ClinVar RCV Id: RCV003602188
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.45507552del , CM000663.2:g.45507552del GRCh38
NC_000001.10:g.45973224del , CM000663.1:g.45973224del GRCh37
NC_000001.9:g.45745811del NCBI36
NG_013378.1:g.12369del

Transcript Alleles

HGVS Amino-acid Change
ENST00000401061.9:c.276+2del MANE Select ENSP00000383840.4:n.276+2del
ENST00000401061.8:c.276+2del ENSP00000383840.4:n.276+2del
ENST00000616135.1:c.105+2del ENSP00000478859.1:n.105+2del
NM_015506.2:c.276+2del NP_056321.2:n.276+2del
XM_005270724.3:c.82-660del XP_005270781.1:n.82-660del
XM_011541204.1:c.105+2del XP_011539506.1:n.105+2del
NM_001330540.1:c.105+2del NP_001317469.1:n.105+2del
XM_005270724.5:c.82-660del XP_005270781.1:n.82-660del
NM_015506.3:c.276+2del MANE Select NP_056321.2:n.276+2del
NM_001330540.2:c.105+2del NP_001317469.1:n.105+2del
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