Canonical Allele Identifier: CA2238191815

Gene: HSBP1 CDH13

Linked Data

• dbSNP Id: rs1912468524
• gnomAD v3: 16-83745270-CCTT-C
• gnomAD v4: 16-83745270-CCTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.83745273_83745275del , CM000678.2:g.83745273_83745275del	GRCh38
NC_000016.9:g.83778878_83778880del , CM000678.1:g.83778878_83778880del	GRCh37
NC_000016.8:g.82336379_82336381del	NCBI36
NG_052819.1:g.1123480_1123482del

Transcript Alleles

HGVS	Amino-acid change
ENST00000690173.1:n.97+25866_97+25868del (HSBP1)
ENST00000693379.1:n.97+25866_97+25868del (HSBP1)
ENST00000693758.1:n.97+25866_97+25868del (HSBP1)
ENST00000567109.6:c.1539-2835_1539-2833del (CDH13) MANE Select	ENSP00000479395.1:n.1539-2835_1539-2833de...
ENST00000268613.14:c.1680-2835_1680-2833del (CDH13)	ENSP00000268613.10:n.1680-2835_1680-2833d...
ENST00000428848.7:c.1422-2835_1422-2833del (CDH13)	ENSP00000394557.3:n.1422-2835_1422-2833de...
ENST00000539548.6:c.*1171-2835_*1171-2833del (CDH13)	ENSP00000442225.2:n.*1171-2835_*1171-2833...
ENST00000566620.5:c.1503-2835_1503-2833del (CDH13)	ENSP00000454435.3:n.1503-2835_1503-2833de...
ENST00000567109.5:c.1539-2835_1539-2833del (CDH13)	ENSP00000479395.1:n.1539-2835_1539-2833de...
ENST00000615627.1:c.459-2835_459-2833del (CDH13)	ENSP00000482651.1:n.459-2835_459-2833del
ENST00000622885.4:c.1383-2835_1383-2833del (CDH13)	ENSP00000483719.1:n.1383-2835_1383-2833de...
NM_001220488.1:c.1680-2835_1680-2833del (CDH13)	NP_001207417.1:n.1680-2835_1680-2833del
NM_001220489.1:c.1422-2835_1422-2833del (CDH13)	NP_001207418.1:n.1422-2835_1422-2833del
NM_001220490.1:c.777-2835_777-2833del (CDH13)	NP_001207419.1:n.777-2835_777-2833del
NM_001257.4:c.1539-2835_1539-2833del (CDH13)	NP_001248.1:n.1539-2835_1539-2833del
XM_011522804.1:c.1236-2835_1236-2833del (CDH13)	XP_011521106.1:n.1236-2835_1236-2833del
XM_011522804.3:c.1236-2835_1236-2833del (CDH13)	XP_011521106.1:n.1236-2835_1236-2833del
NM_001257.5:c.1539-2835_1539-2833del (CDH13) MANE Select	NP_001248.1:n.1539-2835_1539-2833del
NM_001220488.2:c.1680-2835_1680-2833del (CDH13)	NP_001207417.1:n.1680-2835_1680-2833del
NM_001220489.2:c.1422-2835_1422-2833del (CDH13)	NP_001207418.1:n.1422-2835_1422-2833del
NM_001220490.2:c.777-2835_777-2833del (CDH13)	NP_001207419.1:n.777-2835_777-2833del