Canonical Allele Identifier: CA290273503

Gene: HNF1B

Linked Data

• dbSNP Id: rs754776125
• gnomAD v2: 17-36080503-CAT-C
• gnomAD v3: 17-37720508-CAT-C
• gnomAD v4: 17-37720508-CAT-C
• MyVariant Identifiers: chr17:g.36080504_36080505del (hg19) ; chr17:g.37720509_37720510del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.37720518_37720519del , CM000679.2:g.37720518_37720519del	GRCh38
NC_000017.10:g.36080513_36080514del , CM000679.1:g.36080513_36080514del	GRCh37
NC_000017.9:g.33154626_33154627del	NCBI36
NG_013019.2:g.29597_29598del

Transcript Alleles

HGVS	Amino-acid change
ENST00000617811.5:c.1046-9847_1046-9846del MANE Select	ENSP00000480291.1:n.1046-9847_1046-9846de...
ENST00000613727.4:c.968-9847_968-9846del	ENSP00000477524.1:n.968-9847_968-9846del
ENST00000614313.4:c.1046-9847_1046-9846del	ENSP00000482529.1:n.1046-9847_1046-9846de...
ENST00000617272.4:c.1046-9847_1046-9846del	ENSP00000478682.1:n.1046-9847_1046-9846de...
ENST00000617811.4:c.1046-9847_1046-9846del	ENSP00000480291.1:n.1046-9847_1046-9846de...
ENST00000621123.4:c.968-9847_968-9846del	ENSP00000482711.1:n.968-9847_968-9846del
NM_000458.3:c.1046-9847_1046-9846del	NP_000449.1:n.1046-9847_1046-9846del
NM_001165923.3:c.968-9847_968-9846del	NP_001159395.1:n.968-9847_968-9846del
NM_001304286.1:c.968-9847_968-9846del	NP_001291215.1:n.968-9847_968-9846del
XM_011525160.1:c.1046-9847_1046-9846del	XP_011523462.1:n.1046-9847_1046-9846del
XM_011525161.1:c.1046-9847_1046-9846del	XP_011523463.1:n.1046-9847_1046-9846del
XM_011525164.1:c.968-9847_968-9846del	XP_011523466.1:n.968-9847_968-9846del
XR_934718.1:n.2236-3347_2236-3346del
XM_011525162.2:c.*337_*338del	XP_011523464.1:n.*337_*338del
XR_001752875.1:n.574+3032_574+3033del
NM_000458.4:c.1046-9847_1046-9846del MANE Select	NP_000449.1:n.1046-9847_1046-9846del
NM_001165923.4:c.968-9847_968-9846del	NP_001159395.1:n.968-9847_968-9846del
NM_001304286.2:c.968-9847_968-9846del	NP_001291215.1:n.968-9847_968-9846del