Canonical Allele Identifier: CA2682082197

Gene: GSDME

Linked Data

• gnomAD v4: 7-24717191-A-AGTCACACATCTGAGGGATCCTCTGCTGGGGGTCCCTCTGCTGAGGGATCCTCTGCTGGGG

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.24717194_24717195insACACATCTGAGGGATCCTCTGCTGGGGGTCCCTCTGCTGAGGGATCCTCTGCTGGGGGTC , CM000669.2:g.24717194_24717195insACACATCTGAGGGATCCTCTGCTGGGGGTCCCTCTGCTGAGGGATCCTCTGCTGGGGGTC	GRCh38
NC_000007.13:g.24756813_24756814insACACATCTGAGGGATCCTCTGCTGGGGGTCCCTCTGCTGAGGGATCCTCTGCTGGGGGTC , CM000669.1:g.24756813_24756814insACACATCTGAGGGATCCTCTGCTGGGGGTCCCTCTGCTGAGGGATCCTCTGCTGGGGGTC	GRCh37
NC_000007.12:g.24723338_24723339insACACATCTGAGGGATCCTCTGCTGGGGGTCCCTCTGCTGAGGGATCCTCTGCTGGGGGTC	NCBI36
NG_011593.1:g.45829_45830insCCCCAGCAGAGGATCCCTCAGCAGAGGGACCCCCAGCAGAGGATCCCTCAGATGTGTGAC

Transcript Alleles

HGVS	Amino-acid change
ENST00000342947.9:c.697+62_697+63insCCCCAGCAGAGGATCCCTCAGCAGAGGGACCCCCAGCAGAGGATCCCTCAGATGTGTGAC	ENSP00000339587.3:n.697+62_697+63insCCCCAGCAGAGGATCCCTCAGCAGA...
ENST00000409970.6:c.205+62_205+63insCCCCAGCAGAGGATCCCTCAGCAGAGGGACCCCCAGCAGAGGATCCCTCAGATGTGTGAC	ENSP00000387119.1:n.205+62_205+63insCCCCAGCAGAGGATCCCTCAGCAGA...
ENST00000411476.3:n.466+62_466+63insCCCCAGCAGAGGATCCCTCAGCAGAGGGACCCCCAGCAGAGGATCCCTCAGATGTGTGAC
ENST00000414428.2:c.697+62_697+63insCCCCAGCAGAGGATCCCTCAGCAGAGGGACCCCCAGCAGAGGATCCCTCAGATGTGTGAC	ENSP00000413963.2:n.697+62_697+63insCCCCAGCAGAGGATCCCTCAGCAGA...
ENST00000419307.6:c.205+62_205+63insCCCCAGCAGAGGATCCCTCAGCAGAGGGACCCCCAGCAGAGGATCCCTCAGATGTGTGAC	ENSP00000401332.1:n.205+62_205+63insCCCCAGCAGAGGATCCCTCAGCAGA...
ENST00000446822.6:c.171+62_171+63insCCCCAGCAGAGGATCCCTCAGCAGAGGGACCCCCAGCAGAGGATCCCTCAGATGTGTGAC
ENST00000559637.6:n.392+62_392+63insCCCCAGCAGAGGATCCCTCAGCAGAGGGACCCCCAGCAGAGGATCCCTCAGATGTGTGAC
ENST00000645220.1:c.697+62_697+63insCCCCAGCAGAGGATCCCTCAGCAGAGGGACCCCCAGCAGAGGATCCCTCAGATGTGTGAC MANE Select	ENSP00000494186.1:n.697+62_697+63insCCCCAGCAGAGGATCCCTCAGCAGA...
ENST00000342947.7:c.697+62_697+63insCCCCAGCAGAGGATCCCTCAGCAGAGGGACCCCCAGCAGAGGATCCCTCAGATGTGTGAC	ENSP00000339587.3:n.697+62_697+63insCCCCAGCAGAGGATCCCTCAGCAGA...
ENST00000409775.7:c.697+62_697+63insCCCCAGCAGAGGATCCCTCAGCAGAGGGACCCCCAGCAGAGGATCCCTCAGATGTGTGAC	ENSP00000386670.3:n.697+62_697+63insCCCCAGCAGAGGATCCCTCAGCAGA...
ENST00000409970.5:c.205+62_205+63insCCCCAGCAGAGGATCCCTCAGCAGAGGGACCCCCAGCAGAGGATCCCTCAGATGTGTGAC	ENSP00000387119.1:n.205+62_205+63insCCCCAGCAGAGGATCCCTCAGCAGA...
ENST00000411476.2:c.466+62_466+63insCCCCAGCAGAGGATCCCTCAGCAGAGGGACCCCCAGCAGAGGATCCCTCAGATGTGTGAC	ENSP00000414090.2:n.466+62_466+63insCCCCAGCAGAGGATCCCTCAGCAGA...
ENST00000415480.5:c.63+62_63+63insCCCCAGCAGAGGATCCCTCAGCAGAGGGACCCCCAGCAGAGGATCCCTCAGATGTGTGAC
ENST00000419307.5:c.205+62_205+63insCCCCAGCAGAGGATCCCTCAGCAGAGGGACCCCCAGCAGAGGATCCCTCAGATGTGTGAC	ENSP00000401332.1:n.205+62_205+63insCCCCAGCAGAGGATCCCTCAGCAGA...
ENST00000446822.5:c.171+62_171+63insCCCCAGCAGAGGATCCCTCAGCAGAGGGACCCCCAGCAGAGGATCCCTCAGATGTGTGAC
ENST00000493723.5:n.778_779insCCCCAGCAGAGGATCCCTCAGCAGAGGGACCCCCAGCAGAGGATCCCTCAGATGTGTGAC
ENST00000559637.5:n.392+62_392+63insCCCCAGCAGAGGATCCCTCAGCAGAGGGACCCCCAGCAGAGGATCCCTCAGATGTGTGAC
NM_001127453.1:c.697+62_697+63insCCCCAGCAGAGGATCCCTCAGCAGAGGGACCCCCAGCAGAGGATCCCTCAGATGTGTGAC	NP_001120925.1:n.697+62_697+63insCCCCAGCAGAGGATCCCTCAGCAGAGGG...
NM_001127454.1:c.205+62_205+63insCCCCAGCAGAGGATCCCTCAGCAGAGGGACCCCCAGCAGAGGATCCCTCAGATGTGTGAC	NP_001120926.1:n.205+62_205+63insCCCCAGCAGAGGATCCCTCAGCAGAGGG...
NM_004403.2:c.697+62_697+63insCCCCAGCAGAGGATCCCTCAGCAGAGGGACCCCCAGCAGAGGATCCCTCAGATGTGTGAC	NP_004394.1:n.697+62_697+63insCCCCAGCAGAGGATCCCTCAGCAGAGGGACC...
XM_017011802.1:c.205+62_205+63insCCCCAGCAGAGGATCCCTCAGCAGAGGGACCCCCAGCAGAGGATCCCTCAGATGTGTGAC	XP_016867291.1:n.205+62_205+63insCCCCAGCAGAGGATCCCTCAGCAGAGGG...
XM_024446670.1:c.697+62_697+63insCCCCAGCAGAGGATCCCTCAGCAGAGGGACCCCCAGCAGAGGATCCCTCAGATGTGTGAC	XP_024302438.1:n.697+62_697+63insCCCCAGCAGAGGATCCCTCAGCAGAGGG...
NM_004403.3:c.697+62_697+63insCCCCAGCAGAGGATCCCTCAGCAGAGGGACCCCCAGCAGAGGATCCCTCAGATGTGTGAC	NP_004394.1:n.697+62_697+63insCCCCAGCAGAGGATCCCTCAGCAGAGGGACC...
NM_001127453.2:c.697+62_697+63insCCCCAGCAGAGGATCCCTCAGCAGAGGGACCCCCAGCAGAGGATCCCTCAGATGTGTGAC MANE Select	NP_001120925.1:n.697+62_697+63insCCCCAGCAGAGGATCCCTCAGCAGAGGG...
NM_001127454.2:c.205+62_205+63insCCCCAGCAGAGGATCCCTCAGCAGAGGGACCCCCAGCAGAGGATCCCTCAGATGTGTGAC	NP_001120926.1:n.205+62_205+63insCCCCAGCAGAGGATCCCTCAGCAGAGGG...