Canonical Allele Identifier: CA625879181

Gene: HNF1B

Linked Data

• dbSNP Id: rs1347603294
• gnomAD v2: 17-36091530-TG-T
• MyVariant Identifiers: chr17:g.36091531del (hg19) ; chr17:g.37731540del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.37731541del , CM000679.2:g.37731541del	GRCh38
NC_000017.10:g.36091532del , CM000679.1:g.36091532del	GRCh37
NC_000017.9:g.33165645del	NCBI36
NG_013019.2:g.18567del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617811.5:c.1045+55del MANE Select	ENSP00000480291.1:n.1045+55del
ENST00000613727.4:c.967+55del	ENSP00000477524.1:n.967+55del
ENST00000614313.4:c.1045+55del	ENSP00000482529.1:n.1045+55del
ENST00000617272.4:c.1045+55del	ENSP00000478682.1:n.1045+55del
ENST00000617811.4:c.1045+55del	ENSP00000480291.1:n.1045+55del
ENST00000618894.1:n.552del
ENST00000621123.4:c.967+55del	ENSP00000482711.1:n.967+55del
NM_000458.3:c.1045+55del	NP_000449.1:n.1045+55del
NM_001165923.3:c.967+55del	NP_001159395.1:n.967+55del
NM_001304286.1:c.967+55del	NP_001291215.1:n.967+55del
XM_011525160.1:c.1045+55del	XP_011523462.1:n.1045+55del
XM_011525161.1:c.1045+55del	XP_011523463.1:n.1045+55del
XM_011525162.1:c.1045+55del	XP_011523464.1:n.1045+55del
XM_011525163.1:c.1045+55del	XP_011523465.1:n.1045+55del
XM_011525164.1:c.967+55del	XP_011523466.1:n.967+55del
XM_011525162.2:c.1045+55del	XP_011523464.1:n.1045+55del
XM_011525163.2:c.1045+55del	XP_011523465.1:n.1045+55del
NM_000458.4:c.1045+55del MANE Select	NP_000449.1:n.1045+55del
NM_001165923.4:c.967+55del	NP_001159395.1:n.967+55del
NM_001304286.2:c.967+55del	NP_001291215.1:n.967+55del