Canonical Allele Identifier: CA983458180

Gene: HNF1B

Linked Data

• gnomAD v3: 17-37702365-TGAGCAGAAAGGACA-T
• gnomAD v4: 17-37702365-TGAGCAGAAAGGACA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.37702367_37702380del , CM000679.2:g.37702367_37702380del	GRCh38
NC_000017.10:g.36062372_36062385del , CM000679.1:g.36062372_36062385del	GRCh37
NC_000017.9:g.33136485_33136498del	NCBI36
NG_013019.2:g.47728_47741del

Transcript Alleles

HGVS	Amino-acid change
ENST00000617811.5:c.1340-1202_1340-1189del MANE Select	ENSP00000480291.1:n.1340-1202_1340-1189de...
ENST00000613727.4:c.1261+2538_1261+2551del	ENSP00000477524.1:n.1261+2538_1261+2551de...
ENST00000614313.4:c.1340-1202_1340-1189del	ENSP00000482529.1:n.1340-1202_1340-1189de...
ENST00000617272.4:c.*63-1202_*63-1189del	ENSP00000478682.1:n.*63-1202_*63-1189del
ENST00000617811.4:c.1340-1202_1340-1189del	ENSP00000480291.1:n.1340-1202_1340-1189de...
ENST00000621123.4:c.1262-1202_1262-1189del	ENSP00000482711.1:n.1262-1202_1262-1189de...
NM_000458.3:c.1340-1202_1340-1189del	NP_000449.1:n.1340-1202_1340-1189del
NM_001165923.3:c.1262-1202_1262-1189del	NP_001159395.1:n.1262-1202_1262-1189del
NM_001304286.1:c.1261+2538_1261+2551del	NP_001291215.1:n.1261+2538_1261+2551del
XM_011525160.1:c.1340-1202_1340-1189del	XP_011523462.1:n.1340-1202_1340-1189del
XM_011525161.1:c.1339+2538_1339+2551del	XP_011523463.1:n.1339+2538_1339+2551del
XM_011525164.1:c.1262-1202_1262-1189del	XP_011523466.1:n.1262-1202_1262-1189del
NM_000458.4:c.1340-1202_1340-1189del MANE Select	NP_000449.1:n.1340-1202_1340-1189del
NM_001165923.4:c.1262-1202_1262-1189del	NP_001159395.1:n.1262-1202_1262-1189del
NM_001304286.2:c.1261+2538_1261+2551del	NP_001291215.1:n.1261+2538_1261+2551del