Canonical Allele Identifier: CA175631

Gene: GSDME

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.24699243_24699245del , CM000669.2:g.24699243_24699245del	GRCh38
NC_000007.13:g.24738862_24738864del , CM000669.1:g.24738862_24738864del	GRCh37
NC_000007.12:g.24705387_24705389del	NCBI36
NG_011593.1:g.63781_63783del

Transcript Alleles

HGVS	Amino-acid Change
NM_001127453.2:c.1277_1279del MANE Select	NP_001120925.1:p.Asp426del
ENST00000645220.1:c.1277_1279del MANE Select	ENSP00000494186.1:p.Asp426del
NM_001127453.1:c.1277_1279del	NP_001120925.1:p.Asp426del
NM_001127454.1:c.785_787del	NP_001120926.1:p.Asp262del
NM_001127454.2:c.785_787del	NP_001120926.1:p.Asp262del
NM_004403.2:c.1277_1279del	NP_004394.1:p.Asp426del
NM_004403.3:c.1277_1279del	NP_004394.1:p.Asp426del
ENST00000342947.7:c.1277_1279del	ENSP00000339587.3:p.Asp426del
ENST00000342947.9:c.1277_1279del	ENSP00000339587.3:p.Asp426del
ENST00000409775.7:c.1277_1279del	ENSP00000386670.3:p.Asp426del
ENST00000409970.5:c.785_787del	ENSP00000387119.1:p.Asp262del
ENST00000409970.6:c.785_787del	ENSP00000387119.1:p.Asp262del
ENST00000419307.5:c.785_787del	ENSP00000401332.1:p.Asp262del
ENST00000419307.6:c.785_787del	ENSP00000401332.1:p.Asp262del
ENST00000479636.1:n.3298_3300del
XM_017011802.1:c.785_787del	XP_016867291.1:p.Asp262del
XM_024446670.1:c.1277_1279del	XP_024302438.1:p.Asp426del