Canonical Allele Identifier: CA2637449618

Gene: HNF1B

Linked Data

• gnomAD v4: 17-37744923-T-TGTGGGACCCCTTTTCCAGGGGGGGAAAAAAAAGGGGGGGGGGGGGGGGGGG

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.37744924_37744925insTGGGACCCCTTTTCCAGGGGGGGAAAAAAAAGGGGGGGGGGGGGGGGGGGG , CM000679.2:g.37744924_37744925insTGGGACCCCTTTTCCAGGGGGGGAAAAAAAAGGGGGGGGGGGGGGGGGGGG	GRCh38
NC_000017.10:g.36104915_36104916insTGGGACCCCTTTTCCAGGGGGGGAAAAAAAAGGGGGGGGGGGGGGGGGGGG , CM000679.1:g.36104915_36104916insTGGGACCCCTTTTCCAGGGGGGGAAAAAAAAGGGGGGGGGGGGGGGGGGGG	GRCh37
NC_000017.9:g.33179028_33179029insTGGGACCCCTTTTCCAGGGGGGGAAAAAAAAGGGGGGGGGGGGGGGGGGGG	NCBI36
NG_013019.2:g.5183_5184insCCCCCCCCCCCCCCCCCCCTTTTTTTTCCCCCCCTGGAAAAGGGGTCCCAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617811.5:c.-40_-39insCCCCCCCCCCCCCCCCCCCTTTTTTTTCCCCCCCTGGAAAAGGGGTCCCAC MANE Select	ENSP00000480291.1:n.-40_-39insCCCCCCCCCCCCCCCCCCCTTTTTTTTCCCC...
ENST00000613727.4:c.-40_-39insCCCCCCCCCCCCCCCCCCCTTTTTTTTCCCCCCCTGGAAAAGGGGTCCCAC	ENSP00000477524.1:n.-40_-39insCCCCCCCCCCCCCCCCCCCTTTTTTTTCCCC...
ENST00000614313.4:c.-40_-39insCCCCCCCCCCCCCCCCCCCTTTTTTTTCCCCCCCTGGAAAAGGGGTCCCAC	ENSP00000482529.1:n.-40_-39insCCCCCCCCCCCCCCCCCCCTTTTTTTTCCCC...
ENST00000617272.4:c.-40_-39insCCCCCCCCCCCCCCCCCCCTTTTTTTTCCCCCCCTGGAAAAGGGGTCCCAC	ENSP00000478682.1:n.-40_-39insCCCCCCCCCCCCCCCCCCCTTTTTTTTCCCC...
ENST00000617811.4:c.-40_-39insCCCCCCCCCCCCCCCCCCCTTTTTTTTCCCCCCCTGGAAAAGGGGTCCCAC	ENSP00000480291.1:n.-40_-39insCCCCCCCCCCCCCCCCCCCTTTTTTTTCCCC...
ENST00000620125.1:c.-40_-39insCCCCCCCCCCCCCCCCCCCTTTTTTTTCCCCCCCTGGAAAAGGGGTCCCAC	ENSP00000481245.1:n.-40_-39insCCCCCCCCCCCCCCCCCCCTTTTTTTTCCCC...
ENST00000621123.4:c.-40_-39insCCCCCCCCCCCCCCCCCCCTTTTTTTTCCCCCCCTGGAAAAGGGGTCCCAC	ENSP00000482711.1:n.-40_-39insCCCCCCCCCCCCCCCCCCCTTTTTTTTCCCC...
NM_000458.3:c.-40_-39insCCCCCCCCCCCCCCCCCCCTTTTTTTTCCCCCCCTGGAAAAGGGGTCCCAC	NP_000449.1:n.-40_-39insCCCCCCCCCCCCCCCCCCCTTTTTTTTCCCCCCCTGG...
NM_001165923.3:c.-40_-39insCCCCCCCCCCCCCCCCCCCTTTTTTTTCCCCCCCTGGAAAAGGGGTCCCAC	NP_001159395.1:n.-40_-39insCCCCCCCCCCCCCCCCCCCTTTTTTTTCCCCCCC...
NM_001304286.1:c.-40_-39insCCCCCCCCCCCCCCCCCCCTTTTTTTTCCCCCCCTGGAAAAGGGGTCCCAC	NP_001291215.1:n.-40_-39insCCCCCCCCCCCCCCCCCCCTTTTTTTTCCCCCCC...
XM_011525160.1:c.-40_-39insCCCCCCCCCCCCCCCCCCCTTTTTTTTCCCCCCCTGGAAAAGGGGTCCCAC	XP_011523462.1:n.-40_-39insCCCCCCCCCCCCCCCCCCCTTTTTTTTCCCCCCC...
XM_011525161.1:c.-40_-39insCCCCCCCCCCCCCCCCCCCTTTTTTTTCCCCCCCTGGAAAAGGGGTCCCAC	XP_011523463.1:n.-40_-39insCCCCCCCCCCCCCCCCCCCTTTTTTTTCCCCCCC...
XM_011525162.1:c.-40_-39insCCCCCCCCCCCCCCCCCCCTTTTTTTTCCCCCCCTGGAAAAGGGGTCCCAC	XP_011523464.1:n.-40_-39insCCCCCCCCCCCCCCCCCCCTTTTTTTTCCCCCCC...
XM_011525163.1:c.-40_-39insCCCCCCCCCCCCCCCCCCCTTTTTTTTCCCCCCCTGGAAAAGGGGTCCCAC	XP_011523465.1:n.-40_-39insCCCCCCCCCCCCCCCCCCCTTTTTTTTCCCCCCC...
XM_011525164.1:c.-40_-39insCCCCCCCCCCCCCCCCCCCTTTTTTTTCCCCCCCTGGAAAAGGGGTCCCAC	XP_011523466.1:n.-40_-39insCCCCCCCCCCCCCCCCCCCTTTTTTTTCCCCCCC...
XM_011525162.2:c.-40_-39insCCCCCCCCCCCCCCCCCCCTTTTTTTTCCCCCCCTGGAAAAGGGGTCCCAC	XP_011523464.1:n.-40_-39insCCCCCCCCCCCCCCCCCCCTTTTTTTTCCCCCCC...
XM_011525163.2:c.-40_-39insCCCCCCCCCCCCCCCCCCCTTTTTTTTCCCCCCCTGGAAAAGGGGTCCCAC	XP_011523465.1:n.-40_-39insCCCCCCCCCCCCCCCCCCCTTTTTTTTCCCCCCC...
NM_000458.4:c.-40_-39insCCCCCCCCCCCCCCCCCCCTTTTTTTTCCCCCCCTGGAAAAGGGGTCCCAC MANE Select	NP_000449.1:n.-40_-39insCCCCCCCCCCCCCCCCCCCTTTTTTTTCCCCCCCTGG...
NM_001165923.4:c.-40_-39insCCCCCCCCCCCCCCCCCCCTTTTTTTTCCCCCCCTGGAAAAGGGGTCCCAC	NP_001159395.1:n.-40_-39insCCCCCCCCCCCCCCCCCCCTTTTTTTTCCCCCCC...
NM_001304286.2:c.-40_-39insCCCCCCCCCCCCCCCCCCCTTTTTTTTCCCCCCCTGGAAAAGGGGTCCCAC	NP_001291215.1:n.-40_-39insCCCCCCCCCCCCCCCCCCCTTTTTTTTCCCCCCC...