Canonical Allele Identifier: CA1099433649

Gene: GSDME

Linked Data

• dbSNP Id: rs1789594369
• gnomAD v3: 7-24717191-A-AGTCCCTCTGCTGAGTGATCCTCTGCTGGGGGTCCCTCTGCTGAGGGATCCTCTGCTGGGG
• gnomAD v4: 7-24717191-A-AGTCCCTCTGCTGAGTGATCCTCTGCTGGGGGTCCCTCTGCTGAGGGATCCTCTGCTGGGG

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.24717205_24717206insTGATCCTCTGCTGGGGGTCCCTCTGCTGAGGGATCCTCTGCTGGGGGTCCCTCTGCTGAG , CM000669.2:g.24717205_24717206insTGATCCTCTGCTGGGGGTCCCTCTGCTGAGGGATCCTCTGCTGGGGGTCCCTCTGCTGAG	GRCh38
NC_000007.13:g.24756824_24756825insTGATCCTCTGCTGGGGGTCCCTCTGCTGAGGGATCCTCTGCTGGGGGTCCCTCTGCTGAG , CM000669.1:g.24756824_24756825insTGATCCTCTGCTGGGGGTCCCTCTGCTGAGGGATCCTCTGCTGGGGGTCCCTCTGCTGAG	GRCh37
NC_000007.12:g.24723349_24723350insTGATCCTCTGCTGGGGGTCCCTCTGCTGAGGGATCCTCTGCTGGGGGTCCCTCTGCTGAG	NCBI36
NG_011593.1:g.45829_45830insCCCCAGCAGAGGATCCCTCAGCAGAGGGACCCCCAGCAGAGGATCACTCAGCAGAGGGAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342947.9:c.697+62_697+63insCCCCAGCAGAGGATCCCTCAGCAGAGGGACCCCCAGCAGAGGATCACTCAGCAGAGGGAC	ENSP00000339587.3:n.697+62_697+63insCCCCAGCAGAGGATCCCTCAGCAGA...
ENST00000409970.6:c.205+62_205+63insCCCCAGCAGAGGATCCCTCAGCAGAGGGACCCCCAGCAGAGGATCACTCAGCAGAGGGAC	ENSP00000387119.1:n.205+62_205+63insCCCCAGCAGAGGATCCCTCAGCAGA...
ENST00000411476.3:n.466+62_466+63insCCCCAGCAGAGGATCCCTCAGCAGAGGGACCCCCAGCAGAGGATCACTCAGCAGAGGGAC
ENST00000414428.2:c.697+62_697+63insCCCCAGCAGAGGATCCCTCAGCAGAGGGACCCCCAGCAGAGGATCACTCAGCAGAGGGAC	ENSP00000413963.2:n.697+62_697+63insCCCCAGCAGAGGATCCCTCAGCAGA...
ENST00000419307.6:c.205+62_205+63insCCCCAGCAGAGGATCCCTCAGCAGAGGGACCCCCAGCAGAGGATCACTCAGCAGAGGGAC	ENSP00000401332.1:n.205+62_205+63insCCCCAGCAGAGGATCCCTCAGCAGA...
ENST00000446822.6:c.171+62_171+63insCCCCAGCAGAGGATCCCTCAGCAGAGGGACCCCCAGCAGAGGATCACTCAGCAGAGGGAC
ENST00000559637.6:n.392+62_392+63insCCCCAGCAGAGGATCCCTCAGCAGAGGGACCCCCAGCAGAGGATCACTCAGCAGAGGGAC
ENST00000645220.1:c.697+62_697+63insCCCCAGCAGAGGATCCCTCAGCAGAGGGACCCCCAGCAGAGGATCACTCAGCAGAGGGAC MANE Select	ENSP00000494186.1:n.697+62_697+63insCCCCAGCAGAGGATCCCTCAGCAGA...
ENST00000342947.7:c.697+62_697+63insCCCCAGCAGAGGATCCCTCAGCAGAGGGACCCCCAGCAGAGGATCACTCAGCAGAGGGAC	ENSP00000339587.3:n.697+62_697+63insCCCCAGCAGAGGATCCCTCAGCAGA...
ENST00000409775.7:c.697+62_697+63insCCCCAGCAGAGGATCCCTCAGCAGAGGGACCCCCAGCAGAGGATCACTCAGCAGAGGGAC	ENSP00000386670.3:n.697+62_697+63insCCCCAGCAGAGGATCCCTCAGCAGA...
ENST00000409970.5:c.205+62_205+63insCCCCAGCAGAGGATCCCTCAGCAGAGGGACCCCCAGCAGAGGATCACTCAGCAGAGGGAC	ENSP00000387119.1:n.205+62_205+63insCCCCAGCAGAGGATCCCTCAGCAGA...
ENST00000411476.2:c.466+62_466+63insCCCCAGCAGAGGATCCCTCAGCAGAGGGACCCCCAGCAGAGGATCACTCAGCAGAGGGAC	ENSP00000414090.2:n.466+62_466+63insCCCCAGCAGAGGATCCCTCAGCAGA...
ENST00000415480.5:c.63+62_63+63insCCCCAGCAGAGGATCCCTCAGCAGAGGGACCCCCAGCAGAGGATCACTCAGCAGAGGGAC
ENST00000419307.5:c.205+62_205+63insCCCCAGCAGAGGATCCCTCAGCAGAGGGACCCCCAGCAGAGGATCACTCAGCAGAGGGAC	ENSP00000401332.1:n.205+62_205+63insCCCCAGCAGAGGATCCCTCAGCAGA...
ENST00000446822.5:c.171+62_171+63insCCCCAGCAGAGGATCCCTCAGCAGAGGGACCCCCAGCAGAGGATCACTCAGCAGAGGGAC
ENST00000493723.5:n.778_779insCCCCAGCAGAGGATCCCTCAGCAGAGGGACCCCCAGCAGAGGATCACTCAGCAGAGGGAC
ENST00000559637.5:n.392+62_392+63insCCCCAGCAGAGGATCCCTCAGCAGAGGGACCCCCAGCAGAGGATCACTCAGCAGAGGGAC
NM_001127453.1:c.697+62_697+63insCCCCAGCAGAGGATCCCTCAGCAGAGGGACCCCCAGCAGAGGATCACTCAGCAGAGGGAC	NP_001120925.1:n.697+62_697+63insCCCCAGCAGAGGATCCCTCAGCAGAGGG...
NM_001127454.1:c.205+62_205+63insCCCCAGCAGAGGATCCCTCAGCAGAGGGACCCCCAGCAGAGGATCACTCAGCAGAGGGAC	NP_001120926.1:n.205+62_205+63insCCCCAGCAGAGGATCCCTCAGCAGAGGG...
NM_004403.2:c.697+62_697+63insCCCCAGCAGAGGATCCCTCAGCAGAGGGACCCCCAGCAGAGGATCACTCAGCAGAGGGAC	NP_004394.1:n.697+62_697+63insCCCCAGCAGAGGATCCCTCAGCAGAGGGACC...
XM_017011802.1:c.205+62_205+63insCCCCAGCAGAGGATCCCTCAGCAGAGGGACCCCCAGCAGAGGATCACTCAGCAGAGGGAC	XP_016867291.1:n.205+62_205+63insCCCCAGCAGAGGATCCCTCAGCAGAGGG...
XM_024446670.1:c.697+62_697+63insCCCCAGCAGAGGATCCCTCAGCAGAGGGACCCCCAGCAGAGGATCACTCAGCAGAGGGAC	XP_024302438.1:n.697+62_697+63insCCCCAGCAGAGGATCCCTCAGCAGAGGG...
NM_004403.3:c.697+62_697+63insCCCCAGCAGAGGATCCCTCAGCAGAGGGACCCCCAGCAGAGGATCACTCAGCAGAGGGAC	NP_004394.1:n.697+62_697+63insCCCCAGCAGAGGATCCCTCAGCAGAGGGACC...
NM_001127453.2:c.697+62_697+63insCCCCAGCAGAGGATCCCTCAGCAGAGGGACCCCCAGCAGAGGATCACTCAGCAGAGGGAC MANE Select	NP_001120925.1:n.697+62_697+63insCCCCAGCAGAGGATCCCTCAGCAGAGGG...
NM_001127454.2:c.205+62_205+63insCCCCAGCAGAGGATCCCTCAGCAGAGGGACCCCCAGCAGAGGATCACTCAGCAGAGGGAC	NP_001120926.1:n.205+62_205+63insCCCCAGCAGAGGATCCCTCAGCAGAGGG...