Canonical Allele Identifier: CA1695103457

Gene: GSDME

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.24706200_24706203delinsCAAG , CM000669.2:g.24706200_24706203delinsCAAG	GRCh38
NC_000007.13:g.24745819_24745822delinsCAAG , CM000669.1:g.24745819_24745822delinsCAAG	GRCh37
NC_000007.12:g.24712344_24712347delinsCAAG	NCBI36
NG_011593.1:g.56818_56821delinsCTTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342947.9:c.1164_1167delinsCTTG	ENSP00000339587.3:p.Phe388=
ENST00000409970.6:c.672_675delinsCTTG	ENSP00000387119.1:p.Phe224=
ENST00000419307.6:c.672_675delinsCTTG	ENSP00000401332.1:p.Phe224=
ENST00000645220.1:c.1164_1167delinsCTTG MANE Select	ENSP00000494186.1:p.Phe388=
ENST00000342947.7:c.1164_1167delinsCTTG	ENSP00000339587.3:p.Phe388=
ENST00000409775.7:c.1164_1167delinsCTTG	ENSP00000386670.3:p.Phe388=
ENST00000409970.5:c.672_675delinsCTTG	ENSP00000387119.1:p.Phe224=
ENST00000419307.5:c.672_675delinsCTTG	ENSP00000401332.1:p.Phe224=
ENST00000430096.1:c.24_27delinsCTTG	ENSP00000395540.1:p.Phe8=
NM_001127453.1:c.1164_1167delinsCTTG	NP_001120925.1:p.Phe388=
NM_001127454.1:c.672_675delinsCTTG	NP_001120926.1:p.Phe224=
NM_004403.2:c.1164_1167delinsCTTG	NP_004394.1:p.Phe388=
XM_017011802.1:c.672_675delinsCTTG	XP_016867291.1:p.Phe224=
XM_024446670.1:c.1164_1167delinsCTTG	XP_024302438.1:p.Phe388=
NM_004403.3:c.1164_1167delinsCTTG	NP_004394.1:p.Phe388=
NM_001127453.2:c.1164_1167delinsCTTG MANE Select	NP_001120925.1:p.Phe388=
NM_001127454.2:c.672_675delinsCTTG	NP_001120926.1:p.Phe224=