Canonical Allele Identifier: CA1695103263

Gene: GSDME

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.24706100_24706102delinsCCT , CM000669.2:g.24706100_24706102delinsCCT	GRCh38
NC_000007.13:g.24745719_24745721delinsCCT , CM000669.1:g.24745719_24745721delinsCCT	GRCh37
NC_000007.12:g.24712244_24712246delinsCCT	NCBI36
NG_011593.1:g.56919_56921delinsAGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342947.9:c.1183+82_1183+84delinsAGG	ENSP00000339587.3:n.1183+82_1183+84delinsAGG
ENST00000409970.6:c.691+82_691+84delinsAGG	ENSP00000387119.1:n.691+82_691+84delinsAGG
ENST00000419307.6:c.691+82_691+84delinsAGG	ENSP00000401332.1:n.691+82_691+84delinsAGG
ENST00000645220.1:c.1183+82_1183+84delinsAGG MANE Select	ENSP00000494186.1:n.1183+82_1183+84delinsAGG
ENST00000342947.7:c.1183+82_1183+84delinsAGG	ENSP00000339587.3:n.1183+82_1183+84delinsAGG
ENST00000409775.7:c.1183+82_1183+84delinsAGG	ENSP00000386670.3:n.1183+82_1183+84delinsAGG
ENST00000409970.5:c.691+82_691+84delinsAGG	ENSP00000387119.1:n.691+82_691+84delinsAGG
ENST00000419307.5:c.691+82_691+84delinsAGG	ENSP00000401332.1:n.691+82_691+84delinsAGG
ENST00000430096.1:c.43+82_43+84delinsAGG	ENSP00000395540.1:n.43+82_43+84delinsAGG
NM_001127453.1:c.1183+82_1183+84delinsAGG	NP_001120925.1:n.1183+82_1183+84delinsAGG
NM_001127454.1:c.691+82_691+84delinsAGG	NP_001120926.1:n.691+82_691+84delinsAGG
NM_004403.2:c.1183+82_1183+84delinsAGG	NP_004394.1:n.1183+82_1183+84delinsAGG
XM_017011802.1:c.691+82_691+84delinsAGG	XP_016867291.1:n.691+82_691+84delinsAGG
XM_024446670.1:c.1183+82_1183+84delinsAGG	XP_024302438.1:n.1183+82_1183+84delinsAGG
NM_004403.3:c.1183+82_1183+84delinsAGG	NP_004394.1:n.1183+82_1183+84delinsAGG
NM_001127453.2:c.1183+82_1183+84delinsAGG MANE Select	NP_001120925.1:n.1183+82_1183+84delinsAGG
NM_001127454.2:c.691+82_691+84delinsAGG	NP_001120926.1:n.691+82_691+84delinsAGG