Canonical Allele Identifier: CA1099425208

Gene: GSDME

Linked Data

• dbSNP Id: rs1788728359
• gnomAD v3: 7-24698545-C-CTG
• gnomAD v4: 7-24698545-C-CTG

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.24698546_24698547insGT , CM000669.2:g.24698546_24698547insGT	GRCh38
NC_000007.13:g.24738165_24738166insGT , CM000669.1:g.24738165_24738166insGT	GRCh37
NC_000007.12:g.24704690_24704691insGT	NCBI36
NG_011593.1:g.64475_64476insCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342947.9:c.*480_*481insCA	ENSP00000339587.3:n.*480_*481insCA
ENST00000409970.6:c.*480_*481insCA	ENSP00000387119.1:n.*480_*481insCA
ENST00000419307.6:c.*480_*481insCA	ENSP00000401332.1:n.*480_*481insCA
ENST00000645220.1:c.*480_*481insCA MANE Select	ENSP00000494186.1:n.*480_*481insCA
ENST00000342947.7:c.*480_*481insCA	ENSP00000339587.3:n.*480_*481insCA
ENST00000409970.5:c.*480_*481insCA	ENSP00000387119.1:n.*480_*481insCA
ENST00000419307.5:c.*480_*481insCA	ENSP00000401332.1:n.*480_*481insCA
ENST00000479636.1:n.3992_3993insCA
NM_001127453.1:c.*480_*481insCA	NP_001120925.1:n.*480_*481insCA
NM_001127454.1:c.*480_*481insCA	NP_001120926.1:n.*480_*481insCA
NM_004403.2:c.*480_*481insCA	NP_004394.1:n.*480_*481insCA
XM_017011802.1:c.*480_*481insCA	XP_016867291.1:n.*480_*481insCA
XM_024446670.1:c.*480_*481insCA	XP_024302438.1:n.*480_*481insCA
NM_004403.3:c.*480_*481insCA	NP_004394.1:n.*480_*481insCA
NM_001127453.2:c.*480_*481insCA MANE Select	NP_001120925.1:n.*480_*481insCA
NM_001127454.2:c.*480_*481insCA	NP_001120926.1:n.*480_*481insCA