Canonical Allele Identifier: CA2774753218

Gene: GSDME

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.24698512_24698515del , CM000669.2:g.24698512_24698515del	GRCh38
NC_000007.13:g.24738131_24738134del , CM000669.1:g.24738131_24738134del	GRCh37
NC_000007.12:g.24704656_24704659del	NCBI36
NG_011593.1:g.64506_64509del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342947.9:c.*511_*514del	ENSP00000339587.3:n.*511_*514del
ENST00000409970.6:c.*511_*514del	ENSP00000387119.1:n.*511_*514del
ENST00000419307.6:c.*511_*514del	ENSP00000401332.1:n.*511_*514del
ENST00000645220.1:c.*511_*514del MANE Select	ENSP00000494186.1:n.*511_*514del
ENST00000342947.7:c.*511_*514del	ENSP00000339587.3:n.*511_*514del
ENST00000409970.5:c.*511_*514del	ENSP00000387119.1:n.*511_*514del
ENST00000419307.5:c.*511_*514del	ENSP00000401332.1:n.*511_*514del
ENST00000479636.1:n.4023_4026del
NM_001127453.1:c.*511_*514del	NP_001120925.1:n.*511_*514del
NM_001127454.1:c.*511_*514del	NP_001120926.1:n.*511_*514del
NM_004403.2:c.*511_*514del	NP_004394.1:n.*511_*514del
XM_017011802.1:c.*511_*514del	XP_016867291.1:n.*511_*514del
XM_024446670.1:c.*511_*514del	XP_024302438.1:n.*511_*514del
NM_004403.3:c.*511_*514del	NP_004394.1:n.*511_*514del
NM_001127453.2:c.*511_*514del MANE Select	NP_001120925.1:n.*511_*514del
NM_001127454.2:c.*511_*514del	NP_001120926.1:n.*511_*514del