Canonical Allele Identifier: CA625949150
Gene: GSDMA HGNC NCBI

Linked Data

dbSNP Id: rs1194579066
gnomAD v2: 17-38121725-CT-C
gnomAD v3: 17-39965472-CT-C
gnomAD v4: 17-39965472-CT-C
MyVariant Identifiers: chr17:g.38121726del (hg19) chr17:g.39965473del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.39965475del , CM000679.2:g.39965475del GRCh38
NC_000017.10:g.38121728del , CM000679.1:g.38121728del GRCh37
NC_000017.9:g.35375254del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000301659.9:c.-5-208del MANE Select ENSP00000301659.4:n.-5-208del
ENST00000635792.1:c.-5-208del ENSP00000490739.1:n.-5-208del
ENST00000301659.8:c.-5-208del ENSP00000301659.4:n.-5-208del
NM_178171.4:c.-5-208del NP_835465.2:n.-5-208del
XM_017024502.2:c.-5-208del XP_016879991.1:n.-5-208del
XM_017024503.1:c.-5-208del XP_016879992.1:n.-5-208del
XM_017024504.2:c.-5-208del XP_016879993.1:n.-5-208del
NM_178171.5:c.-5-208del MANE Select NP_835465.2:n.-5-208del
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