Canonical Allele Identifier: CA573341085

Gene: GSDME

Linked Data

• dbSNP Id: rs1343136181
• gnomAD v2: 7-24738296-A-AGACT
• MyVariant Identifiers: chr7:g.24738296_24738297insGACT (hg19) ; chr7:g.24698677_24698678insGACT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.24698678_24698681dup , CM000669.2:g.24698678_24698681dup	GRCh38
NC_000007.13:g.24738297_24738300dup , CM000669.1:g.24738297_24738300dup	GRCh37
NC_000007.12:g.24704822_24704825dup	NCBI36
NG_011593.1:g.64340_64343dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000342947.9:c.*345_*348dup	ENSP00000339587.3:n.*345_*348dup
ENST00000409970.6:c.*345_*348dup	ENSP00000387119.1:n.*345_*348dup
ENST00000419307.6:c.*345_*348dup	ENSP00000401332.1:n.*345_*348dup
ENST00000645220.1:c.*345_*348dup MANE Select	ENSP00000494186.1:n.*345_*348dup
ENST00000342947.7:c.*345_*348dup	ENSP00000339587.3:n.*345_*348dup
ENST00000409970.5:c.*345_*348dup	ENSP00000387119.1:n.*345_*348dup
ENST00000419307.5:c.*345_*348dup	ENSP00000401332.1:n.*345_*348dup
ENST00000479636.1:n.3857_3860dup
NM_001127453.1:c.*345_*348dup	NP_001120925.1:n.*345_*348dup
NM_001127454.1:c.*345_*348dup	NP_001120926.1:n.*345_*348dup
NM_004403.2:c.*345_*348dup	NP_004394.1:n.*345_*348dup
XM_017011802.1:c.*345_*348dup	XP_016867291.1:n.*345_*348dup
XM_024446670.1:c.*345_*348dup	XP_024302438.1:n.*345_*348dup
NM_004403.3:c.*345_*348dup	NP_004394.1:n.*345_*348dup
NM_001127453.2:c.*345_*348dup MANE Select	NP_001120925.1:n.*345_*348dup
NM_001127454.2:c.*345_*348dup	NP_001120926.1:n.*345_*348dup