Canonical Allele Identifier: CA1695090895

Gene: GSDME

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.24698503_24698506delinsGATT , CM000669.2:g.24698503_24698506delinsGATT	GRCh38
NC_000007.13:g.24738122_24738125delinsGATT , CM000669.1:g.24738122_24738125delinsGATT	GRCh37
NC_000007.12:g.24704647_24704650delinsGATT	NCBI36
NG_011593.1:g.64515_64518delinsAATC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342947.9:c.*520_*523delinsAATC	ENSP00000339587.3:n.*520_*523delinsAATC
ENST00000409970.6:c.*520_*523delinsAATC	ENSP00000387119.1:n.*520_*523delinsAATC
ENST00000419307.6:c.*520_*523delinsAATC	ENSP00000401332.1:n.*520_*523delinsAATC
ENST00000645220.1:c.*520_*523delinsAATC MANE Select	ENSP00000494186.1:n.*520_*523delinsAATC
ENST00000342947.7:c.*520_*523delinsAATC	ENSP00000339587.3:n.*520_*523delinsAATC
ENST00000409970.5:c.*520_*523delinsAATC	ENSP00000387119.1:n.*520_*523delinsAATC
ENST00000419307.5:c.*520_*523delinsAATC	ENSP00000401332.1:n.*520_*523delinsAATC
ENST00000479636.1:n.4032_4035delinsAATC
NM_001127453.1:c.*520_*523delinsAATC	NP_001120925.1:n.*520_*523delinsAATC
NM_001127454.1:c.*520_*523delinsAATC	NP_001120926.1:n.*520_*523delinsAATC
NM_004403.2:c.*520_*523delinsAATC	NP_004394.1:n.*520_*523delinsAATC
XM_017011802.1:c.*520_*523delinsAATC	XP_016867291.1:n.*520_*523delinsAATC
XM_024446670.1:c.*520_*523delinsAATC	XP_024302438.1:n.*520_*523delinsAATC
NM_004403.3:c.*520_*523delinsAATC	NP_004394.1:n.*520_*523delinsAATC
NM_001127453.2:c.*520_*523delinsAATC MANE Select	NP_001120925.1:n.*520_*523delinsAATC
NM_001127454.2:c.*520_*523delinsAATC	NP_001120926.1:n.*520_*523delinsAATC