Canonical Allele Identifier: CA2541187535

Gene: HNF1B

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.37701190_37701193del , CM000679.2:g.37701190_37701193del	GRCh38
NC_000017.10:g.36061195_36061198del , CM000679.1:g.36061195_36061198del	GRCh37
NC_000017.9:g.33135308_33135311del	NCBI36
NG_013019.2:g.48914_48917del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617811.5:c.1340-16_1340-13del MANE Select	ENSP00000480291.1:n.1340-16_1340-13del
ENST00000613727.4:c.1261+3724_1261+3727del	ENSP00000477524.1:n.1261+3724_1261+3727del
ENST00000614313.4:c.1340-16_1340-13del	ENSP00000482529.1:n.1340-16_1340-13del
ENST00000617272.4:c.*63-16_*63-13del	ENSP00000478682.1:n.*63-16_*63-13del
ENST00000617811.4:c.1340-16_1340-13del	ENSP00000480291.1:n.1340-16_1340-13del
ENST00000621123.4:c.1262-16_1262-13del	ENSP00000482711.1:n.1262-16_1262-13del
NM_000458.3:c.1340-16_1340-13del	NP_000449.1:n.1340-16_1340-13del
NM_001165923.3:c.1262-16_1262-13del	NP_001159395.1:n.1262-16_1262-13del
NM_001304286.1:c.1261+3724_1261+3727del	NP_001291215.1:n.1261+3724_1261+3727del
XM_011525160.1:c.1340-16_1340-13del	XP_011523462.1:n.1340-16_1340-13del
XM_011525161.1:c.1340-1999_1340-1996del	XP_011523463.1:n.1340-1999_1340-1996del
XM_011525164.1:c.1262-16_1262-13del	XP_011523466.1:n.1262-16_1262-13del
NM_000458.4:c.1340-16_1340-13del MANE Select	NP_000449.1:n.1340-16_1340-13del
NM_001165923.4:c.1262-16_1262-13del	NP_001159395.1:n.1262-16_1262-13del
NM_001304286.2:c.1261+3724_1261+3727del	NP_001291215.1:n.1261+3724_1261+3727del