Canonical Allele Identifier: CA2509002790

Gene: GLIS2 PAM16

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4333469_4333498del , CM000678.2:g.4333469_4333498del	GRCh38
NC_000016.9:g.4383470_4383499del , CM000678.1:g.4383470_4383499del	GRCh37
NC_000016.8:g.4323471_4323500del	NCBI36
NG_016391.1:g.6246_6275del
NG_016391.2:g.23709_23738del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433375.2:c.295_324del (GLIS2) MANE Select	ENSP00000395547.1:p.Ser99_Leu108del
ENST00000262366.7:c.295_324del (GLIS2)	ENSP00000262366.3:p.Ser99_Leu108del
ENST00000433375.1:c.295_324del (GLIS2)	ENSP00000395547.1:p.Ser99_Leu108del
ENST00000577031.5:c.292-1721_292-1692del (PAM16)	ENSP00000459113.1:n.292-1721_292-1692del
NM_032575.2:c.295_324del (GLIS2)	NP_115964.2:p.Ser99_Leu108del
XM_005255641.3:c.295_324del (GLIS2)	XP_005255698.1:p.Ser99_Leu108del
XM_005255642.2:c.295_324del (GLIS2)	XP_005255699.1:p.Ser99_Leu108del
NM_001318918.1:c.295_324del (GLIS2)	NP_001305847.1:p.Ser99_Leu108del
XM_005255641.4:c.295_324del (GLIS2)	XP_005255698.1:p.Ser99_Leu108del
NM_032575.3:c.295_324del (GLIS2) MANE Select	NP_115964.2:p.Ser99_Leu108del
NM_001318918.2:c.295_324del (GLIS2)	NP_001305847.1:p.Ser99_Leu108del