Canonical Allele Identifier: CA771889049

Gene: GSDMA

Linked Data

• dbSNP Id: rs1238076819
• gnomAD v3: 17-39965593-ACTCT-A
• gnomAD v4: 17-39965593-ACTCT-A
• MyVariant Identifiers: chr17:g.38121847_38121850del (hg19) ; chr17:g.39965594_39965597del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39965598_39965601del , CM000679.2:g.39965598_39965601del	GRCh38
NC_000017.10:g.38121851_38121854del , CM000679.1:g.38121851_38121854del	GRCh37
NC_000017.9:g.35375377_35375380del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301659.9:c.-5-85_-5-82del MANE Select	ENSP00000301659.4:n.-5-85_-5-82del
ENST00000635792.1:c.-5-85_-5-82del	ENSP00000490739.1:n.-5-85_-5-82del
ENST00000301659.8:c.-5-85_-5-82del	ENSP00000301659.4:n.-5-85_-5-82del
ENST00000577447.1:c.-6+10_-6+13del	ENSP00000461985.1:n.-6+10_-6+13del
NM_178171.4:c.-5-85_-5-82del	NP_835465.2:n.-5-85_-5-82del
XM_006721832.2:c.-6+10_-6+13del	XP_006721895.1:n.-6+10_-6+13del
XM_006721832.3:c.-6+10_-6+13del	XP_006721895.1:n.-6+10_-6+13del
XM_017024502.2:c.-5-85_-5-82del	XP_016879991.1:n.-5-85_-5-82del
XM_017024503.1:c.-5-85_-5-82del	XP_016879992.1:n.-5-85_-5-82del
XM_017024504.2:c.-5-85_-5-82del	XP_016879993.1:n.-5-85_-5-82del
NM_178171.5:c.-5-85_-5-82del MANE Select	NP_835465.2:n.-5-85_-5-82del