Canonical Allele Identifier: CA2497420531

Gene: HNF1B

Linked Data

• dbSNP Id: rs2033273714
• gnomAD v3: 17-37720478-TAGAGA-T
• gnomAD v4: 17-37720478-TAGAGA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.37720485_37720489del , CM000679.2:g.37720485_37720489del	GRCh38
NC_000017.10:g.36080480_36080484del , CM000679.1:g.36080480_36080484del	GRCh37
NC_000017.9:g.33154593_33154597del	NCBI36
NG_013019.2:g.29624_29628del

Transcript Alleles

HGVS	Amino-acid change
ENST00000617811.5:c.1046-9820_1046-9816del MANE Select	ENSP00000480291.1:n.1046-9820_1046-9816de...
ENST00000613727.4:c.968-9820_968-9816del	ENSP00000477524.1:n.968-9820_968-9816del
ENST00000614313.4:c.1046-9820_1046-9816del	ENSP00000482529.1:n.1046-9820_1046-9816de...
ENST00000617272.4:c.1046-9820_1046-9816del	ENSP00000478682.1:n.1046-9820_1046-9816de...
ENST00000617811.4:c.1046-9820_1046-9816del	ENSP00000480291.1:n.1046-9820_1046-9816de...
ENST00000621123.4:c.968-9820_968-9816del	ENSP00000482711.1:n.968-9820_968-9816del
NM_000458.3:c.1046-9820_1046-9816del	NP_000449.1:n.1046-9820_1046-9816del
NM_001165923.3:c.968-9820_968-9816del	NP_001159395.1:n.968-9820_968-9816del
NM_001304286.1:c.968-9820_968-9816del	NP_001291215.1:n.968-9820_968-9816del
XM_011525160.1:c.1046-9820_1046-9816del	XP_011523462.1:n.1046-9820_1046-9816del
XM_011525161.1:c.1046-9820_1046-9816del	XP_011523463.1:n.1046-9820_1046-9816del
XM_011525164.1:c.968-9820_968-9816del	XP_011523466.1:n.968-9820_968-9816del
XR_934718.1:n.2236-3380_2236-3376del
XM_011525162.2:c.*364_*368del	XP_011523464.1:n.*364_*368del
XR_001752875.1:n.574+2999_574+3003del
NM_000458.4:c.1046-9820_1046-9816del MANE Select	NP_000449.1:n.1046-9820_1046-9816del
NM_001165923.4:c.968-9820_968-9816del	NP_001159395.1:n.968-9820_968-9816del
NM_001304286.2:c.968-9820_968-9816del	NP_001291215.1:n.968-9820_968-9816del