Canonical Allele Identifier: CA594323985

Gene: CDH23

Linked Data

• dbSNP Id: rs1344063950
• gnomAD v2: 10-73500640-TC-T
• gnomAD v4: 10-71740883-TC-T
• MyVariant Identifiers: chr10:g.73500641del (hg19) ; chr10:g.71740884del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71740885del , CM000672.2:g.71740885del	GRCh38
NC_000010.10:g.73500642del , CM000672.1:g.73500642del	GRCh37
NC_000010.9:g.73170648del	NCBI36
NG_008835.1:g.348939del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000224721.12:c.4552del MANE Select	ENSP00000224721.9:p.Leu1518TrpfsTer20
ENST00000224721.10:c.4567del	ENSP00000224721.8:p.Leu1523TrpfsTer20
ENST00000398792.3:n.1241del
ENST00000622827.4:c.4552del	ENSP00000483211.1:p.Leu1518TrpfsTer20
NM_022124.5:c.4552del	NP_071407.4:p.Leu1518TrpfsTer20
XM_006717940.2:c.4747del	XP_006718003.1:p.Leu1583TrpfsTer20
XM_006717942.2:c.4681del	XP_006718005.1:p.Leu1561TrpfsTer20
XM_011540039.1:c.4744del	XP_011538341.1:p.Leu1582TrpfsTer20
XM_011540040.1:c.4741del	XP_011538342.1:p.Leu1581TrpfsTer20
XM_011540041.1:c.4687del	XP_011538343.1:p.Leu1563TrpfsTer20
XM_011540042.1:c.4747del	XP_011538344.1:p.Leu1583TrpfsTer20
XM_011540043.1:c.4747del	XP_011538345.1:p.Leu1583TrpfsTer20
XM_011540044.1:c.4612del	XP_011538346.1:p.Leu1538TrpfsTer20
XM_011540045.1:c.4747del	XP_011538347.1:p.Leu1583TrpfsTer20
XM_011540046.1:c.4207del	XP_011538348.1:p.Leu1403TrpfsTer20
XM_011540047.1:c.3565del	XP_011538349.1:p.Leu1189TrpfsTer20
XM_011540048.1:c.4747del	XP_011538350.1:p.Leu1583TrpfsTer20
XM_011540049.1:c.4747del	XP_011538351.1:p.Leu1583TrpfsTer20
XM_011540050.1:c.4747del	XP_011538352.1:p.Leu1583TrpfsTer20
XM_011540051.1:c.4747del	XP_011538353.1:p.Leu1583TrpfsTer20
XM_011540052.1:c.1075del	XP_011538354.1:p.Leu359TrpfsTer20
XM_011540053.1:c.4747del	XP_011538355.1:p.Leu1583TrpfsTer20
XR_945796.1:n.4990del
NM_022124.6:c.4552del MANE Select	NP_071407.4:p.Leu1518TrpfsTer20