Canonical Allele Identifier: CA771889020
Gene: GSDMA HGNC NCBI

Linked Data

dbSNP Id: rs1251500905
gnomAD v3: 17-39965504-TA-T
gnomAD v4: 17-39965504-TA-T
MyVariant Identifiers: chr17:g.38121758del (hg19) chr17:g.39965505del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.39965508del , CM000679.2:g.39965508del GRCh38
NC_000017.10:g.38121761del , CM000679.1:g.38121761del GRCh37
NC_000017.9:g.35375287del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000301659.9:c.-5-175del MANE Select ENSP00000301659.4:n.-5-175del
ENST00000635792.1:c.-5-175del ENSP00000490739.1:n.-5-175del
ENST00000301659.8:c.-5-175del ENSP00000301659.4:n.-5-175del
NM_178171.4:c.-5-175del NP_835465.2:n.-5-175del
XM_017024502.2:c.-5-175del XP_016879991.1:n.-5-175del
XM_017024503.1:c.-5-175del XP_016879992.1:n.-5-175del
XM_017024504.2:c.-5-175del XP_016879993.1:n.-5-175del
NM_178171.5:c.-5-175del MANE Select NP_835465.2:n.-5-175del
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