Canonical Allele Identifier: CA2616352350
Gene: HMBS HGNC NCBI

Linked Data

gnomAD v4: 11-119084870-GA-G
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119084871del , CM000673.2:g.119084871del GRCh38
NC_000011.9:g.118955581del , CM000673.1:g.118955581del GRCh37
NC_000011.8:g.118460791del NCBI36
NG_008093.1:g.4995del

Transcript Alleles

HGVS Amino-acid Change
ENST00000536185.5:n.6del
XM_005271533.3:c.-163del XP_005271590.1:n.-163del
XM_024448460.1:c.-163del XP_024304228.1:n.-163del
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