Canonical Allele Identifier: CA913190794

Gene: HNF1B

Linked Data

• ClinVar Variation Id: 635692
• ClinVar RCV Id: RCV000787203

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.37739511_37739512insGGGCTGCA , CM000679.2:g.37739511_37739512insGGGCTGCA	GRCh38
NC_000017.10:g.36099502_36099503insGGGCTGCA , CM000679.1:g.36099502_36099503insGGGCTGCA	GRCh37
NC_000017.9:g.33173615_33173616insGGGCTGCA	NCBI36
NG_013019.2:g.10595_10596insTGCAGCCC

Transcript Alleles

HGVS	Amino-acid change
ENST00000617811.5:c.472_473insTGCAGCCC MANE Select	ENSP00000480291.1:p.Thr158MetfsTer6
ENST00000613727.4:c.472_473insTGCAGCCC	ENSP00000477524.1:p.Thr158MetfsTer6
ENST00000614313.4:c.472_473insTGCAGCCC	ENSP00000482529.1:p.Thr158MetfsTer6
ENST00000617272.4:c.472_473insTGCAGCCC	ENSP00000478682.1:p.Thr158MetfsTer6
ENST00000617811.4:c.472_473insTGCAGCCC	ENSP00000480291.1:p.Thr158MetfsTer6
ENST00000620125.1:c.472_473insTGCAGCCC	ENSP00000481245.1:p.Thr158MetfsTer6
ENST00000621123.4:c.472_473insTGCAGCCC	ENSP00000482711.1:p.Thr158MetfsTer6
NM_000458.3:c.472_473insTGCAGCCC	NP_000449.1:p.Thr158MetfsTer6
NM_001165923.3:c.472_473insTGCAGCCC	NP_001159395.1:p.Thr158MetfsTer6
NM_001304286.1:c.472_473insTGCAGCCC	NP_001291215.1:p.Thr158MetfsTer6
XM_011525160.1:c.472_473insTGCAGCCC	XP_011523462.1:p.Thr158MetfsTer6
XM_011525161.1:c.472_473insTGCAGCCC	XP_011523463.1:p.Thr158MetfsTer6
XM_011525162.1:c.472_473insTGCAGCCC	XP_011523464.1:p.Thr158MetfsTer6
XM_011525163.1:c.472_473insTGCAGCCC	XP_011523465.1:p.Thr158MetfsTer6
XM_011525164.1:c.472_473insTGCAGCCC	XP_011523466.1:p.Thr158MetfsTer6
XM_011525162.2:c.472_473insTGCAGCCC	XP_011523464.1:p.Thr158MetfsTer6
XM_011525163.2:c.472_473insTGCAGCCC	XP_011523465.1:p.Thr158MetfsTer6
NM_000458.4:c.472_473insTGCAGCCC MANE Select	NP_000449.1:p.Thr158MetfsTer6
NM_001165923.4:c.472_473insTGCAGCCC	NP_001159395.1:p.Thr158MetfsTer6
NM_001304286.2:c.472_473insTGCAGCCC	NP_001291215.1:p.Thr158MetfsTer6