Canonical Allele Identifier: CA625879204

Gene: HNF1B

Linked Data

• dbSNP Id: rs1211417689
• gnomAD v2: 17-36091546-GGT-G
• gnomAD v3: 17-37731555-GGT-G
• gnomAD v4: 17-37731555-GGT-G
• MyVariant Identifiers: chr17:g.36091547_36091548del (hg19) ; chr17:g.37731556_37731557del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.37731556_37731557del , CM000679.2:g.37731556_37731557del	GRCh38
NC_000017.10:g.36091547_36091548del , CM000679.1:g.36091547_36091548del	GRCh37
NC_000017.9:g.33165660_33165661del	NCBI36
NG_013019.2:g.18550_18551del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617811.5:c.1045+38_1045+39del MANE Select	ENSP00000480291.1:n.1045+38_1045+39del
ENST00000613727.4:c.967+38_967+39del	ENSP00000477524.1:n.967+38_967+39del
ENST00000614313.4:c.1045+38_1045+39del	ENSP00000482529.1:n.1045+38_1045+39del
ENST00000617272.4:c.1045+38_1045+39del	ENSP00000478682.1:n.1045+38_1045+39del
ENST00000617811.4:c.1045+38_1045+39del	ENSP00000480291.1:n.1045+38_1045+39del
ENST00000618894.1:n.535_536del
ENST00000621123.4:c.967+38_967+39del	ENSP00000482711.1:n.967+38_967+39del
NM_000458.3:c.1045+38_1045+39del	NP_000449.1:n.1045+38_1045+39del
NM_001165923.3:c.967+38_967+39del	NP_001159395.1:n.967+38_967+39del
NM_001304286.1:c.967+38_967+39del	NP_001291215.1:n.967+38_967+39del
XM_011525160.1:c.1045+38_1045+39del	XP_011523462.1:n.1045+38_1045+39del
XM_011525161.1:c.1045+38_1045+39del	XP_011523463.1:n.1045+38_1045+39del
XM_011525162.1:c.1045+38_1045+39del	XP_011523464.1:n.1045+38_1045+39del
XM_011525163.1:c.1045+38_1045+39del	XP_011523465.1:n.1045+38_1045+39del
XM_011525164.1:c.967+38_967+39del	XP_011523466.1:n.967+38_967+39del
XM_011525162.2:c.1045+38_1045+39del	XP_011523464.1:n.1045+38_1045+39del
XM_011525163.2:c.1045+38_1045+39del	XP_011523465.1:n.1045+38_1045+39del
NM_000458.4:c.1045+38_1045+39del MANE Select	NP_000449.1:n.1045+38_1045+39del
NM_001165923.4:c.967+38_967+39del	NP_001159395.1:n.967+38_967+39del
NM_001304286.2:c.967+38_967+39del	NP_001291215.1:n.967+38_967+39del