Canonical Allele Identifier: CA2631457535

Gene: GLIS2 PAM16

Linked Data

• gnomAD v4: 16-4333454-GGC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4333455_4333456del , CM000678.2:g.4333455_4333456del	GRCh38
NC_000016.9:g.4383456_4383457del , CM000678.1:g.4383456_4383457del	GRCh37
NC_000016.8:g.4323457_4323458del	NCBI36
NG_016391.1:g.6232_6233del
NG_016391.2:g.23695_23696del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433375.2:c.281_282del (GLIS2) MANE Select	ENSP00000395547.1:p.Gly94GlufsTer?
ENST00000262366.7:c.281_282del (GLIS2)	ENSP00000262366.3:p.Gly94GlufsTer?
ENST00000433375.1:c.281_282del (GLIS2)	ENSP00000395547.1:p.Gly94GlufsTer?
ENST00000577031.5:c.292-1682_292-1681del (PAM16)	ENSP00000459113.1:n.292-1682_292-1681del
NM_032575.2:c.281_282del (GLIS2)	NP_115964.2:p.Gly94GlufsTer?
XM_005255641.3:c.281_282del (GLIS2)	XP_005255698.1:p.Gly94GlufsTer?
XM_005255642.2:c.281_282del (GLIS2)	XP_005255699.1:p.Gly94GlufsTer?
NM_001318918.1:c.281_282del (GLIS2)	NP_001305847.1:p.Gly94GlufsTer?
XM_005255641.4:c.281_282del (GLIS2)	XP_005255698.1:p.Gly94GlufsTer?
NM_032575.3:c.281_282del (GLIS2) MANE Select	NP_115964.2:p.Gly94GlufsTer?
NM_001318918.2:c.281_282del (GLIS2)	NP_001305847.1:p.Gly94GlufsTer?