Canonical Allele Identifier: CA2645390721
Gene: MMACHC HGNC NCBI

Linked Data

dbSNP Id: rs2149320876
gnomAD v4: 1-45500360-CAGA-C
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.45500364_45500366del , CM000663.2:g.45500364_45500366del GRCh38
NC_000001.10:g.45966036_45966038del , CM000663.1:g.45966036_45966038del GRCh37
NC_000001.9:g.45738623_45738625del NCBI36
NG_013378.1:g.5181_5183del

Transcript Alleles

HGVS Amino-acid Change
ENST00000401061.9:c.32_34del MANE Select ENSP00000383840.4:p.Lys11del
ENST00000401061.8:c.32_34del ENSP00000383840.4:p.Lys11del
ENST00000616135.1:c.-140_-138del ENSP00000478859.1:n.-140_-138del
NM_015506.2:c.32_34del NP_056321.2:p.Lys11del
XM_005270724.3:c.32_34del XP_005270781.1:p.Lys11del
XM_011541204.1:c.-191_-189del XP_011539506.1:n.-191_-189del
NM_001330540.1:c.-191_-189del NP_001317469.1:n.-191_-189del
XM_005270724.5:c.32_34del XP_005270781.1:p.Lys11del
NM_015506.3:c.32_34del MANE Select NP_056321.2:p.Lys11del
NM_001330540.2:c.-191_-189del NP_001317469.1:n.-191_-189del
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