Canonical Allele Identifier: CA2631457534

Gene: GLIS2 PAM16

Linked Data

• gnomAD v4: 16-4333426-ACCACCATCTGGGCTGGACTCCCCCAATGGCAGCAGCTCGCTGTCC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4333429_4333473del , CM000678.2:g.4333429_4333473del	GRCh38
NC_000016.9:g.4383430_4383474del , CM000678.1:g.4383430_4383474del	GRCh37
NC_000016.8:g.4323431_4323475del	NCBI36
NG_016391.1:g.6206_6250del
NG_016391.2:g.23669_23713del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433375.2:c.255_299del (GLIS2) MANE Select	ENSP00000395547.1:p.Pro86_Pro100del
ENST00000262366.7:c.255_299del (GLIS2)	ENSP00000262366.3:p.Pro86_Pro100del
ENST00000433375.1:c.255_299del (GLIS2)	ENSP00000395547.1:p.Pro86_Pro100del
ENST00000577031.5:c.292-1697_292-1653del (PAM16)	ENSP00000459113.1:n.292-1697_292-1653del
NM_032575.2:c.255_299del (GLIS2)	NP_115964.2:p.Pro86_Pro100del
XM_005255641.3:c.255_299del (GLIS2)	XP_005255698.1:p.Pro86_Pro100del
XM_005255642.2:c.255_299del (GLIS2)	XP_005255699.1:p.Pro86_Pro100del
NM_001318918.1:c.255_299del (GLIS2)	NP_001305847.1:p.Pro86_Pro100del
XM_005255641.4:c.255_299del (GLIS2)	XP_005255698.1:p.Pro86_Pro100del
NM_032575.3:c.255_299del (GLIS2) MANE Select	NP_115964.2:p.Pro86_Pro100del
NM_001318918.2:c.255_299del (GLIS2)	NP_001305847.1:p.Pro86_Pro100del