Canonical Allele Identifier: CA2774756247

Gene: GSDME

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.24706084_24706092del , CM000669.2:g.24706084_24706092del	GRCh38
NC_000007.13:g.24745703_24745711del , CM000669.1:g.24745703_24745711del	GRCh37
NC_000007.12:g.24712228_24712236del	NCBI36
NG_011593.1:g.56930_56938del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342947.9:c.1183+93_1183+101del	ENSP00000339587.3:n.1183+93_1183+101del
ENST00000409970.6:c.691+93_691+101del	ENSP00000387119.1:n.691+93_691+101del
ENST00000419307.6:c.691+93_691+101del	ENSP00000401332.1:n.691+93_691+101del
ENST00000645220.1:c.1183+93_1183+101del MANE Select	ENSP00000494186.1:n.1183+93_1183+101del
ENST00000342947.7:c.1183+93_1183+101del	ENSP00000339587.3:n.1183+93_1183+101del
ENST00000409775.7:c.1183+93_1183+101del	ENSP00000386670.3:n.1183+93_1183+101del
ENST00000409970.5:c.691+93_691+101del	ENSP00000387119.1:n.691+93_691+101del
ENST00000419307.5:c.691+93_691+101del	ENSP00000401332.1:n.691+93_691+101del
ENST00000430096.1:c.43+93_43+101del	ENSP00000395540.1:n.43+93_43+101del
NM_001127453.1:c.1183+93_1183+101del	NP_001120925.1:n.1183+93_1183+101del
NM_001127454.1:c.691+93_691+101del	NP_001120926.1:n.691+93_691+101del
NM_004403.2:c.1183+93_1183+101del	NP_004394.1:n.1183+93_1183+101del
XM_017011802.1:c.691+93_691+101del	XP_016867291.1:n.691+93_691+101del
XM_024446670.1:c.1183+93_1183+101del	XP_024302438.1:n.1183+93_1183+101del
NM_004403.3:c.1183+93_1183+101del	NP_004394.1:n.1183+93_1183+101del
NM_001127453.2:c.1183+93_1183+101del MANE Select	NP_001120925.1:n.1183+93_1183+101del
NM_001127454.2:c.691+93_691+101del	NP_001120926.1:n.691+93_691+101del