Canonical Allele Identifier: CA2713831285
Gene: GSDME HGNC NCBI

Linked Data

dbSNP Id: rs201456060

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.24698543_24698547del , CM000669.2:g.24698543_24698547del GRCh38
NC_000007.13:g.24738162_24738166del , CM000669.1:g.24738162_24738166del GRCh37
NC_000007.12:g.24704687_24704691del NCBI36
NG_011593.1:g.64476_64480del

Transcript Alleles

HGVS Amino-acid Change
ENST00000342947.9:c.*481_*485del ENSP00000339587.3:n.*481_*485del
ENST00000409970.6:c.*481_*485del ENSP00000387119.1:n.*481_*485del
ENST00000419307.6:c.*481_*485del ENSP00000401332.1:n.*481_*485del
ENST00000645220.1:c.*481_*485del MANE Select ENSP00000494186.1:n.*481_*485del
ENST00000342947.7:c.*481_*485del ENSP00000339587.3:n.*481_*485del
ENST00000409970.5:c.*481_*485del ENSP00000387119.1:n.*481_*485del
ENST00000419307.5:c.*481_*485del ENSP00000401332.1:n.*481_*485del
ENST00000479636.1:n.3993_3997del
NM_001127453.1:c.*481_*485del NP_001120925.1:n.*481_*485del
NM_001127454.1:c.*481_*485del NP_001120926.1:n.*481_*485del
NM_004403.2:c.*481_*485del NP_004394.1:n.*481_*485del
XM_017011802.1:c.*481_*485del XP_016867291.1:n.*481_*485del
XM_024446670.1:c.*481_*485del XP_024302438.1:n.*481_*485del
NM_004403.3:c.*481_*485del NP_004394.1:n.*481_*485del
NM_001127453.2:c.*481_*485del MANE Select NP_001120925.1:n.*481_*485del
NM_001127454.2:c.*481_*485del NP_001120926.1:n.*481_*485del