Canonical Allele Identifier: CA10625870

Gene: GSDME

Linked Data

• ClinVar Variation Id: 359824
• ClinVar RCV Id: RCV000387429
• dbSNP Id: rs201456060
• gnomAD v2: 7-24738159-A-ATACTC
• gnomAD v3: 7-24698540-A-ATACTC
• gnomAD v4: 7-24698540-A-ATACTC
• MyVariant Identifiers: chr7:g.24738160_24738164dupTACTC (hg19) ; chr7:g.24738159_24738160insTACTC (hg19) ; chr7:g.24698541_24698545dupTACTC (hg38) ; chr7:g.24698540_24698541insTACTC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.24698543_24698547dup , CM000669.2:g.24698543_24698547dup	GRCh38
NC_000007.13:g.24738162_24738166dup , CM000669.1:g.24738162_24738166dup	GRCh37
NC_000007.12:g.24704687_24704691dup	NCBI36
NG_011593.1:g.64476_64480dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342947.9:c.*481_*485dup	ENSP00000339587.3:n.*481_*485dup
ENST00000409970.6:c.*481_*485dup	ENSP00000387119.1:n.*481_*485dup
ENST00000419307.6:c.*481_*485dup	ENSP00000401332.1:n.*481_*485dup
ENST00000645220.1:c.*481_*485dup MANE Select	ENSP00000494186.1:n.*481_*485dup
ENST00000342947.7:c.*481_*485dup	ENSP00000339587.3:n.*481_*485dup
ENST00000409970.5:c.*481_*485dup	ENSP00000387119.1:n.*481_*485dup
ENST00000419307.5:c.*481_*485dup	ENSP00000401332.1:n.*481_*485dup
ENST00000479636.1:n.3993_3997dup
NM_001127453.1:c.*481_*485dup	NP_001120925.1:n.*481_*485dup
NM_001127454.1:c.*481_*485dup	NP_001120926.1:n.*481_*485dup
NM_004403.2:c.*481_*485dup	NP_004394.1:n.*481_*485dup
XM_017011802.1:c.*481_*485dup	XP_016867291.1:n.*481_*485dup
XM_024446670.1:c.*481_*485dup	XP_024302438.1:n.*481_*485dup
NM_004403.3:c.*481_*485dup	NP_004394.1:n.*481_*485dup
NM_001127453.2:c.*481_*485dup MANE Select	NP_001120925.1:n.*481_*485dup
NM_001127454.2:c.*481_*485dup	NP_001120926.1:n.*481_*485dup