Canonical Allele Identifier: CA915944897

Gene: GSDME

Linked Data

• ClinVar Variation Id: 804739
• ClinVar RCV Id: RCV000991888

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.24702817_24702818delinsCA , CM000669.2:g.24702817_24702818delinsCA	GRCh38
NC_000007.13:g.24742436_24742437delinsCA , CM000669.1:g.24742436_24742437delinsCA	GRCh37
NC_000007.12:g.24708961_24708962delinsCA	NCBI36
NG_011593.1:g.60203_60204delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342947.9:c.1199_1200delinsTG	ENSP00000339587.3:p.Ala400Val
ENST00000409970.6:c.707_708delinsTG	ENSP00000387119.1:p.Ala236Val
ENST00000419307.6:c.707_708delinsTG	ENSP00000401332.1:p.Ala236Val
ENST00000645220.1:c.1199_1200delinsTG MANE Select	ENSP00000494186.1:p.Ala400Val
ENST00000342947.7:c.1199_1200delinsTG	ENSP00000339587.3:p.Ala400Val
ENST00000409775.7:c.1199_1200delinsTG	ENSP00000386670.3:p.Ala400Val
ENST00000409970.5:c.707_708delinsTG	ENSP00000387119.1:p.Ala236Val
ENST00000419307.5:c.707_708delinsTG	ENSP00000401332.1:p.Ala236Val
ENST00000430096.1:c.59_60delinsTG	ENSP00000395540.1:p.Ala20Val
ENST00000479636.1:n.3220_3221delinsTG
NM_001127453.1:c.1199_1200delinsTG	NP_001120925.1:p.Ala400Val
NM_001127454.1:c.707_708delinsTG	NP_001120926.1:p.Ala236Val
NM_004403.2:c.1199_1200delinsTG	NP_004394.1:p.Ala400Val
XM_017011802.1:c.707_708delinsTG	XP_016867291.1:p.Ala236Val
XM_024446670.1:c.1199_1200delinsTG	XP_024302438.1:p.Ala400Val
NM_004403.3:c.1199_1200delinsTG	NP_004394.1:p.Ala400Val
NM_001127453.2:c.1199_1200delinsTG MANE Select	NP_001120925.1:p.Ala400Val
NM_001127454.2:c.707_708delinsTG	NP_001120926.1:p.Ala236Val