Canonical Allele Identifier: CA979871286

Gene: HSBP1 CDH13

Linked Data

• dbSNP Id: rs1912969200
• gnomAD v3: 16-83750252-T-C
• gnomAD v4: 16-83750252-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.83750252T>C , CM000678.2:g.83750252T>C	GRCh38
NC_000016.9:g.83783857T>C , CM000678.1:g.83783857T>C	GRCh37
NC_000016.8:g.82341358T>C	NCBI36
NG_052819.1:g.1128459T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000690173.1:n.97+30845T>C (HSBP1)
ENST00000693379.1:n.97+30845T>C (HSBP1)
ENST00000693758.1:n.97+30845T>C (HSBP1)
ENST00000567109.6:c.1681+2002T>C (CDH13) MANE Select	ENSP00000479395.1:n.1681+2002T>C
ENST00000268613.14:c.1822+2002T>C (CDH13)	ENSP00000268613.10:n.1822+2002T>C
ENST00000428848.7:c.1564+2002T>C (CDH13)	ENSP00000394557.3:n.1564+2002T>C
ENST00000539548.6:c.*1313+2002T>C (CDH13)	ENSP00000442225.2:n.*1313+2002T>C
ENST00000566620.5:c.1645+2002T>C (CDH13)	ENSP00000454435.3:n.1645+2002T>C
ENST00000567109.5:c.1681+2002T>C (CDH13)	ENSP00000479395.1:n.1681+2002T>C
ENST00000615627.1:c.601+2002T>C (CDH13)	ENSP00000482651.1:n.601+2002T>C
ENST00000622885.4:c.1525+2002T>C (CDH13)	ENSP00000483719.1:n.1525+2002T>C
NM_001220488.1:c.1822+2002T>C (CDH13)	NP_001207417.1:n.1822+2002T>C
NM_001220489.1:c.1564+2002T>C (CDH13)	NP_001207418.1:n.1564+2002T>C
NM_001220490.1:c.919+2002T>C (CDH13)	NP_001207419.1:n.919+2002T>C
NM_001257.4:c.1681+2002T>C (CDH13)	NP_001248.1:n.1681+2002T>C
XM_011522804.1:c.1378+2002T>C (CDH13)	XP_011521106.1:n.1378+2002T>C
XM_011522804.3:c.1378+2002T>C (CDH13)	XP_011521106.1:n.1378+2002T>C
NM_001257.5:c.1681+2002T>C (CDH13) MANE Select	NP_001248.1:n.1681+2002T>C
NM_001220488.2:c.1822+2002T>C (CDH13)	NP_001207417.1:n.1822+2002T>C
NM_001220489.2:c.1564+2002T>C (CDH13)	NP_001207418.1:n.1564+2002T>C
NM_001220490.2:c.919+2002T>C (CDH13)	NP_001207419.1:n.919+2002T>C