Canonical Allele Identifier: CA8519125

Gene: HNF1B

Linked Data

• dbSNP Id: rs762499042
• ExAC: 17:36104620 A / AGTCGTCGCCGTCCTCGGAGCC
• gnomAD v2: 17-36104620-A-AGTCGTCGCCGTCCTCGGAGCC
• gnomAD v4: 17-37744629-A-AGTCGTCGCCGTCCTCGGAGCC
• MyVariant Identifiers: chr17:g.36104620_36104621insGTCGTCGCCGTCCTCGGAGCC (hg19) ; chr17:g.37744629_37744630insGTCGTCGCCGTCCTCGGAGCC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.37744630_37744650dup , CM000679.2:g.37744630_37744650dup	GRCh38
NC_000017.10:g.36104621_36104641dup , CM000679.1:g.36104621_36104641dup	GRCh37
NC_000017.9:g.33178734_33178754dup	NCBI36
NG_013019.2:g.5457_5477dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617811.5:c.235_255dup MANE Select	ENSP00000480291.1:p.Asp85_Tyr86insGlySerGluAspGlyAspAsp
ENST00000613727.4:c.235_255dup	ENSP00000477524.1:p.Asp85_Tyr86insGlySerGluAspGlyAspAsp
ENST00000614313.4:c.235_255dup	ENSP00000482529.1:p.Asp85_Tyr86insGlySerGluAspGlyAspAsp
ENST00000617272.4:c.235_255dup	ENSP00000478682.1:p.Asp85_Tyr86insGlySerGluAspGlyAspAsp
ENST00000617811.4:c.235_255dup	ENSP00000480291.1:p.Asp85_Tyr86insGlySerGluAspGlyAspAsp
ENST00000620125.1:c.235_255dup	ENSP00000481245.1:p.Asp85_Tyr86insGlySerGluAspGlyAspAsp
ENST00000621123.4:c.235_255dup	ENSP00000482711.1:p.Asp85_Tyr86insGlySerGluAspGlyAspAsp
NM_000458.3:c.235_255dup	NP_000449.1:p.Asp85_Tyr86insGlySerGluAspGlyAspAsp
NM_001165923.3:c.235_255dup	NP_001159395.1:p.Asp85_Tyr86insGlySerGluAspGlyAspAsp
NM_001304286.1:c.235_255dup	NP_001291215.1:p.Asp85_Tyr86insGlySerGluAspGlyAspAsp
XM_011525160.1:c.235_255dup	XP_011523462.1:p.Asp85_Tyr86insGlySerGluAspGlyAspAsp
XM_011525161.1:c.235_255dup	XP_011523463.1:p.Asp85_Tyr86insGlySerGluAspGlyAspAsp
XM_011525162.1:c.235_255dup	XP_011523464.1:p.Asp85_Tyr86insGlySerGluAspGlyAspAsp
XM_011525163.1:c.235_255dup	XP_011523465.1:p.Asp85_Tyr86insGlySerGluAspGlyAspAsp
XM_011525164.1:c.235_255dup	XP_011523466.1:p.Asp85_Tyr86insGlySerGluAspGlyAspAsp
XM_011525162.2:c.235_255dup	XP_011523464.1:p.Asp85_Tyr86insGlySerGluAspGlyAspAsp
XM_011525163.2:c.235_255dup	XP_011523465.1:p.Asp85_Tyr86insGlySerGluAspGlyAspAsp
NM_000458.4:c.235_255dup MANE Select	NP_000449.1:p.Asp85_Tyr86insGlySerGluAspGlyAspAsp
NM_001165923.4:c.235_255dup	NP_001159395.1:p.Asp85_Tyr86insGlySerGluAspGlyAspAsp
NM_001304286.2:c.235_255dup	NP_001291215.1:p.Asp85_Tyr86insGlySerGluAspGlyAspAsp