Canonical Allele Identifier: CA2637662210
Gene: GSDMA HGNC NCBI

Linked Data

gnomAD v4: 17-39965454-TG-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.39965457del , CM000679.2:g.39965457del GRCh38
NC_000017.10:g.38121710del , CM000679.1:g.38121710del GRCh37
NC_000017.9:g.35375236del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000301659.9:c.-5-226del MANE Select ENSP00000301659.4:n.-5-226del
ENST00000635792.1:c.-5-226del ENSP00000490739.1:n.-5-226del
ENST00000301659.8:c.-5-226del ENSP00000301659.4:n.-5-226del
NM_178171.4:c.-5-226del NP_835465.2:n.-5-226del
XM_017024502.2:c.-5-226del XP_016879991.1:n.-5-226del
XM_017024503.1:c.-5-226del XP_016879992.1:n.-5-226del
XM_017024504.2:c.-5-226del XP_016879993.1:n.-5-226del
NM_178171.5:c.-5-226del MANE Select NP_835465.2:n.-5-226del
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