Canonical Allele Identifier: CA10645512
Gene: HNF1B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.37687405_37687406del , CM000679.2:g.37687405_37687406del GRCh38
NC_000017.10:g.36047408_36047409del , CM000679.1:g.36047408_36047409del GRCh37
NC_000017.9:g.33121521_33121522del NCBI36
NG_013019.2:g.62709_62710del

Transcript Alleles

HGVS Amino-acid Change
ENST00000617811.5:c.1654-6_1654-5del MANE Select ENSP00000480291.1:n.1654-6_1654-5del
ENST00000613727.4:c.1262-6_1262-5del ENSP00000477524.1:n.1262-6_1262-5del
ENST00000614313.4:c.1535-6_1535-5del ENSP00000482529.1:n.1535-6_1535-5del
ENST00000617272.4:c.*258-6_*258-5del ENSP00000478682.1:n.*258-6_*258-5del
ENST00000617811.4:c.1654-6_1654-5del ENSP00000480291.1:n.1654-6_1654-5del
ENST00000621123.4:c.1576-6_1576-5del ENSP00000482711.1:n.1576-6_1576-5del
NM_000458.3:c.1654-6_1654-5del NP_000449.1:n.1654-6_1654-5del
NM_001165923.3:c.1576-6_1576-5del NP_001159395.1:n.1576-6_1576-5del
NM_001304286.1:c.1262-6_1262-5del NP_001291215.1:n.1262-6_1262-5del
XM_011525160.1:c.1535-6_1535-5del XP_011523462.1:n.1535-6_1535-5del
XM_011525161.1:c.1459-6_1459-5del XP_011523463.1:n.1459-6_1459-5del
XM_011525164.1:c.1457-6_1457-5del XP_011523466.1:n.1457-6_1457-5del
XR_002958135.1:n.1591+159_1591+160del
NM_000458.4:c.1654-6_1654-5del MANE Select NP_000449.1:n.1654-6_1654-5del
NM_001165923.4:c.1576-6_1576-5del NP_001159395.1:n.1576-6_1576-5del
NM_001304286.2:c.1262-6_1262-5del NP_001291215.1:n.1262-6_1262-5del