Canonical Allele Identifier: CA4191717

Gene: GSDME

Linked Data

• dbSNP Id: rs753992851
• ExAC: 7:24758726 C / CTCAGAGATCACACACTTCTGCA
• gnomAD v2: 7-24758726-C-CTCAGAGATCACACACTTCTGCA
• gnomAD v4: 7-24719107-C-CTCAGAGATCACACACTTCTGCA
• MyVariant Identifiers: chr7:g.24758726_24758727insTCAGAGATCACACACTTCTGCA (hg19) ; chr7:g.24719107_24719108insTCAGAGATCACACACTTCTGCA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.24719110_24719131dup , CM000669.2:g.24719110_24719131dup	GRCh38
NC_000007.13:g.24758729_24758750dup , CM000669.1:g.24758729_24758750dup	GRCh37
NC_000007.12:g.24725254_24725275dup	NCBI36
NG_011593.1:g.43892_43913dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000342947.9:c.494_515dup	ENSP00000339587.3:p.Glu172AspfsTer8
ENST00000409970.6:c.2_23dup	ENSP00000387119.1:p.Glu8AspfsTer8
ENST00000411476.3:n.263_284dup
ENST00000414428.2:c.494_515dup	ENSP00000413963.2:p.Glu172AspfsTer8
ENST00000419307.6:c.2_23dup	ENSP00000401332.1:p.Glu8AspfsTer8
ENST00000559637.6:n.189_210dup
ENST00000645220.1:c.494_515dup MANE Select	ENSP00000494186.1:p.Glu172AspfsTer8
ENST00000342947.7:c.494_515dup	ENSP00000339587.3:p.Glu172AspfsTer8
ENST00000409775.7:c.494_515dup	ENSP00000386670.3:p.Glu172AspfsTer8
ENST00000409970.5:c.2_23dup	ENSP00000387119.1:p.Glu8AspfsTer8
ENST00000411476.2:c.263_284dup	ENSP00000414090.2:p.Glu95AspfsTer8
ENST00000414428.1:c.2_23dup	ENSP00000413963.1:p.Glu8AspfsTer8
ENST00000419307.5:c.2_23dup	ENSP00000401332.1:p.Glu8AspfsTer8
ENST00000493723.5:n.513_534dup
ENST00000559637.5:n.189_210dup
NM_001127453.1:c.494_515dup	NP_001120925.1:p.Glu172AspfsTer8
NM_001127454.1:c.2_23dup	NP_001120926.1:p.Glu8AspfsTer8
NM_004403.2:c.494_515dup	NP_004394.1:p.Glu172AspfsTer8
XM_017011802.1:c.2_23dup	XP_016867291.1:p.Glu8AspfsTer8
XM_024446670.1:c.494_515dup	XP_024302438.1:p.Glu172AspfsTer8
NM_004403.3:c.494_515dup	NP_004394.1:p.Glu172AspfsTer8
NM_001127453.2:c.494_515dup MANE Select	NP_001120925.1:p.Glu172AspfsTer8
NM_001127454.2:c.2_23dup	NP_001120926.1:p.Glu8AspfsTer8