Canonical Allele Identifier: CA4191361

Gene: GSDME

Linked Data

• ClinVar Variation Id: 225338
• ClinVar RCV Id: RCV000490372 ; RCV001566169
• dbSNP Id: rs757421220
• ExAC: 7:24742439 G / GCTAT
• gnomAD v2: 7-24742439-G-GCTAT
• gnomAD v3: 7-24702820-G-GCTAT
• gnomAD v4: 7-24702820-G-GCTAT
• MyVariant Identifiers: chr7:g.24742440_24742443dupCTAT (hg19) ; chr7:g.24742439_24742440insCTAT (hg19) ; chr7:g.24702821_24702824dupCTAT (hg38) ; chr7:g.24702820_24702821insCTAT (hg38)
• PubMed: PMID:17868390

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.24702823_24702826dup , CM000669.2:g.24702823_24702826dup	GRCh38
NC_000007.13:g.24742442_24742445dup , CM000669.1:g.24742442_24742445dup	GRCh37
NC_000007.12:g.24708967_24708970dup	NCBI36
NG_011593.1:g.60197_60200dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342947.9:c.1193_1196dup	ENSP00000339587.3:p.Ser399ArgfsTer2
ENST00000409970.6:c.701_704dup	ENSP00000387119.1:p.Ser235ArgfsTer2
ENST00000419307.6:c.701_704dup	ENSP00000401332.1:p.Ser235ArgfsTer2
ENST00000645220.1:c.1193_1196dup MANE Select	ENSP00000494186.1:p.Ser399ArgfsTer2
ENST00000342947.7:c.1193_1196dup	ENSP00000339587.3:p.Ser399ArgfsTer2
ENST00000409775.7:c.1193_1196dup	ENSP00000386670.3:p.Ser399ArgfsTer2
ENST00000409970.5:c.701_704dup	ENSP00000387119.1:p.Ser235ArgfsTer2
ENST00000419307.5:c.701_704dup	ENSP00000401332.1:p.Ser235ArgfsTer2
ENST00000430096.1:c.53_56dup	ENSP00000395540.1:p.Ser19ArgfsTer2
ENST00000479636.1:n.3214_3217dup
NM_001127453.1:c.1193_1196dup	NP_001120925.1:p.Ser399ArgfsTer2
NM_001127454.1:c.701_704dup	NP_001120926.1:p.Ser235ArgfsTer2
NM_004403.2:c.1193_1196dup	NP_004394.1:p.Ser399ArgfsTer2
XM_017011802.1:c.701_704dup	XP_016867291.1:p.Ser235ArgfsTer2
XM_024446670.1:c.1193_1196dup	XP_024302438.1:p.Ser399ArgfsTer2
NM_004403.3:c.1193_1196dup	NP_004394.1:p.Ser399ArgfsTer2
NM_001127453.2:c.1193_1196dup MANE Select	NP_001120925.1:p.Ser399ArgfsTer2
NM_001127454.2:c.701_704dup	NP_001120926.1:p.Ser235ArgfsTer2