Canonical Allele Identifier: CA836950362

Gene: GSDME

Linked Data

• dbSNP Id: rs1265849293
• MyVariant Identifiers: chr7:g.24756807_24756842del (hg19) ; chr7:g.24717188_24717223del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.24717188_24717223del , CM000669.2:g.24717188_24717223del	GRCh38
NC_000007.13:g.24756807_24756842del , CM000669.1:g.24756807_24756842del	GRCh37
NC_000007.12:g.24723332_24723367del	NCBI36
NG_011593.1:g.45798_45833del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342947.9:c.697+31_697+66del	ENSP00000339587.3:n.697+31_697+66del
ENST00000409970.6:c.205+31_205+66del	ENSP00000387119.1:n.205+31_205+66del
ENST00000411476.3:n.466+31_466+66del
ENST00000414428.2:c.697+31_697+66del	ENSP00000413963.2:n.697+31_697+66del
ENST00000419307.6:c.205+31_205+66del	ENSP00000401332.1:n.205+31_205+66del
ENST00000446822.6:c.171+31_171+66del
ENST00000559637.6:n.392+31_392+66del
ENST00000645220.1:c.697+31_697+66del MANE Select	ENSP00000494186.1:n.697+31_697+66del
ENST00000342947.7:c.697+31_697+66del	ENSP00000339587.3:n.697+31_697+66del
ENST00000409775.7:c.697+31_697+66del	ENSP00000386670.3:n.697+31_697+66del
ENST00000409970.5:c.205+31_205+66del	ENSP00000387119.1:n.205+31_205+66del
ENST00000411476.2:c.466+31_466+66del	ENSP00000414090.2:n.466+31_466+66del
ENST00000415480.5:c.63+31_63+66del
ENST00000419307.5:c.205+31_205+66del	ENSP00000401332.1:n.205+31_205+66del
ENST00000446822.5:c.171+31_171+66del
ENST00000493723.5:n.747_782del
ENST00000559637.5:n.392+31_392+66del
NM_001127453.1:c.697+31_697+66del	NP_001120925.1:n.697+31_697+66del
NM_001127454.1:c.205+31_205+66del	NP_001120926.1:n.205+31_205+66del
NM_004403.2:c.697+31_697+66del	NP_004394.1:n.697+31_697+66del
XM_017011802.1:c.205+31_205+66del	XP_016867291.1:n.205+31_205+66del
XM_024446670.1:c.697+31_697+66del	XP_024302438.1:n.697+31_697+66del
NM_004403.3:c.697+31_697+66del	NP_004394.1:n.697+31_697+66del
NM_001127453.2:c.697+31_697+66del MANE Select	NP_001120925.1:n.697+31_697+66del
NM_001127454.2:c.205+31_205+66del	NP_001120926.1:n.205+31_205+66del