Canonical Allele Identifier: CA155367931
Gene: GSDME HGNC NCBI

Linked Data

dbSNP Id: rs1047092084

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.24698684_24698685del , CM000669.2:g.24698684_24698685del GRCh38
NC_000007.13:g.24738303_24738304del , CM000669.1:g.24738303_24738304del GRCh37
NC_000007.12:g.24704828_24704829del NCBI36
NG_011593.1:g.64337_64338del

Transcript Alleles

HGVS Amino-acid change
ENST00000342947.9:c.*342_*343del ENSP00000339587.3:n.*342_*343del
ENST00000409970.6:c.*342_*343del ENSP00000387119.1:n.*342_*343del
ENST00000419307.6:c.*342_*343del ENSP00000401332.1:n.*342_*343del
ENST00000645220.1:c.*342_*343del MANE Select ENSP00000494186.1:n.*342_*343del
ENST00000342947.7:c.*342_*343del ENSP00000339587.3:n.*342_*343del
ENST00000409970.5:c.*342_*343del ENSP00000387119.1:n.*342_*343del
ENST00000419307.5:c.*342_*343del ENSP00000401332.1:n.*342_*343del
ENST00000479636.1:n.3854_3855del
NM_001127453.1:c.*342_*343del NP_001120925.1:n.*342_*343del
NM_001127454.1:c.*342_*343del NP_001120926.1:n.*342_*343del
NM_004403.2:c.*342_*343del NP_004394.1:n.*342_*343del
XM_017011802.1:c.*342_*343del XP_016867291.1:n.*342_*343del
XM_024446670.1:c.*342_*343del XP_024302438.1:n.*342_*343del
NM_004403.3:c.*342_*343del NP_004394.1:n.*342_*343del
NM_001127453.2:c.*342_*343del MANE Select NP_001120925.1:n.*342_*343del
NM_001127454.2:c.*342_*343del NP_001120926.1:n.*342_*343del