Canonical Allele Identifier: CA2645390714
Gene: MMACHC HGNC NCBI

Linked Data

gnomAD v4: 1-45500309-CA-C
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.45500311del , CM000663.2:g.45500311del GRCh38
NC_000001.10:g.45965983del , CM000663.1:g.45965983del GRCh37
NC_000001.9:g.45738570del NCBI36
NG_013378.1:g.5128del

Transcript Alleles

HGVS Amino-acid Change
ENST00000401061.9:c.-22del MANE Select ENSP00000383840.4:n.-22del
ENST00000401061.8:c.-22del ENSP00000383840.4:n.-22del
NM_015506.2:c.-22del NP_056321.2:n.-22del
NM_001330540.1:c.-244del NP_001317469.1:n.-244del
XM_005270724.5:c.-22del XP_005270781.1:n.-22del
NM_015506.3:c.-22del MANE Select NP_056321.2:n.-22del
NM_001330540.2:c.-244del NP_001317469.1:n.-244del
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