Canonical Allele Identifier: CA1695091488

Gene: GSDME

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.24698682_24698684delinsCTT , CM000669.2:g.24698682_24698684delinsCTT	GRCh38
NC_000007.13:g.24738301_24738303delinsCTT , CM000669.1:g.24738301_24738303delinsCTT	GRCh37
NC_000007.12:g.24704826_24704828delinsCTT	NCBI36
NG_011593.1:g.64337_64339delinsAAG

Transcript Alleles

HGVS	Amino-acid change
ENST00000342947.9:c.*342_*344delinsAAG	ENSP00000339587.3:n.*342_*344delinsAAG
ENST00000409970.6:c.*342_*344delinsAAG	ENSP00000387119.1:n.*342_*344delinsAAG
ENST00000419307.6:c.*342_*344delinsAAG	ENSP00000401332.1:n.*342_*344delinsAAG
ENST00000645220.1:c.*342_*344delinsAAG MANE Select	ENSP00000494186.1:n.*342_*344delinsAAG
ENST00000342947.7:c.*342_*344delinsAAG	ENSP00000339587.3:n.*342_*344delinsAAG
ENST00000409970.5:c.*342_*344delinsAAG	ENSP00000387119.1:n.*342_*344delinsAAG
ENST00000419307.5:c.*342_*344delinsAAG	ENSP00000401332.1:n.*342_*344delinsAAG
ENST00000479636.1:n.3854_3856delinsAAG
NM_001127453.1:c.*342_*344delinsAAG	NP_001120925.1:n.*342_*344delinsAAG
NM_001127454.1:c.*342_*344delinsAAG	NP_001120926.1:n.*342_*344delinsAAG
NM_004403.2:c.*342_*344delinsAAG	NP_004394.1:n.*342_*344delinsAAG
XM_017011802.1:c.*342_*344delinsAAG	XP_016867291.1:n.*342_*344delinsAAG
XM_024446670.1:c.*342_*344delinsAAG	XP_024302438.1:n.*342_*344delinsAAG
NM_004403.3:c.*342_*344delinsAAG	NP_004394.1:n.*342_*344delinsAAG
NM_001127453.2:c.*342_*344delinsAAG MANE Select	NP_001120925.1:n.*342_*344delinsAAG
NM_001127454.2:c.*342_*344delinsAAG	NP_001120926.1:n.*342_*344delinsAAG