Canonical Allele Identifier: CA2593424880

Gene: HNF1B

Linked Data

• gnomAD v3: 17-37738083-A-AGCGTT
• gnomAD v4: 17-37738083-A-AGCGTT

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.37738085_37738089dup , CM000679.2:g.37738085_37738089dup	GRCh38
NC_000017.10:g.36098076_36098080dup , CM000679.1:g.36098076_36098080dup	GRCh37
NC_000017.9:g.33172189_33172193dup	NCBI36
NG_013019.2:g.12019_12023dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000617811.5:c.544+1352_544+1356dup MANE Select	ENSP00000480291.1:n.544+1352_544+1356dup
ENST00000613727.4:c.544+1352_544+1356dup	ENSP00000477524.1:n.544+1352_544+1356dup
ENST00000614313.4:c.544+1352_544+1356dup	ENSP00000482529.1:n.544+1352_544+1356dup
ENST00000617272.4:c.544+1352_544+1356dup	ENSP00000478682.1:n.544+1352_544+1356dup
ENST00000617811.4:c.544+1352_544+1356dup	ENSP00000480291.1:n.544+1352_544+1356dup
ENST00000620125.1:c.544+1352_544+1356dup	ENSP00000481245.1:n.544+1352_544+1356dup
ENST00000621123.4:c.544+1352_544+1356dup	ENSP00000482711.1:n.544+1352_544+1356dup
NM_000458.3:c.544+1352_544+1356dup	NP_000449.1:n.544+1352_544+1356dup
NM_001165923.3:c.544+1352_544+1356dup	NP_001159395.1:n.544+1352_544+1356dup
NM_001304286.1:c.544+1352_544+1356dup	NP_001291215.1:n.544+1352_544+1356dup
XM_011525160.1:c.544+1352_544+1356dup	XP_011523462.1:n.544+1352_544+1356dup
XM_011525161.1:c.544+1352_544+1356dup	XP_011523463.1:n.544+1352_544+1356dup
XM_011525162.1:c.544+1352_544+1356dup	XP_011523464.1:n.544+1352_544+1356dup
XM_011525163.1:c.544+1352_544+1356dup	XP_011523465.1:n.544+1352_544+1356dup
XM_011525164.1:c.544+1352_544+1356dup	XP_011523466.1:n.544+1352_544+1356dup
XM_011525162.2:c.544+1352_544+1356dup	XP_011523464.1:n.544+1352_544+1356dup
XM_011525163.2:c.544+1352_544+1356dup	XP_011523465.1:n.544+1352_544+1356dup
NM_000458.4:c.544+1352_544+1356dup MANE Select	NP_000449.1:n.544+1352_544+1356dup
NM_001165923.4:c.544+1352_544+1356dup	NP_001159395.1:n.544+1352_544+1356dup
NM_001304286.2:c.544+1352_544+1356dup	NP_001291215.1:n.544+1352_544+1356dup