Linked Data
ClinVar Variation Id:
4917
ClinVar RCV Id:
RCV000005199
dbSNP Id:
rs796051860
ExAC:
10:73491865 CATG / C
gnomAD v2:
10-73491865-CATG-C
gnomAD v3:
10-71732108-CATG-C
gnomAD v4:
10-71732108-CATG-C
MyVariant Identifiers:
chr10:g.73491870_73491872del (hg19)
chr10:g.73491866_73491868del (hg19)
chr10:g.71732113_71732115del (hg38)
chr10:g.71732109_71732111del (hg38)
PubMed:
PMID:11138009
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.71732113_71732115del , CM000672.2:g.71732113_71732115del | GRCh38 |
| NC_000010.10:g.73491870_73491872del , CM000672.1:g.73491870_73491872del | GRCh37 |
| NC_000010.9:g.73161876_73161878del | NCBI36 |
| NG_008835.1:g.340167_340169del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000224721.12:c.3842_3844del (CDH23) MANE Select | ENSP00000224721.9:p.Met1281del | |
| ENST00000398809.9:c.3839_3841del (CDH23) | ENSP00000381789.5:p.Met1280del | |
| ENST00000224721.10:c.3857_3859del (CDH23) | ENSP00000224721.8:p.Met1286del | |
| ENST00000398786.2:c.-6+5617_-6+5619del (C10orf105) | ENSP00000381766.3:n.-6+5617_-6+5619del | |
| ENST00000398792.3:n.534_536del (CDH23) | ||
| ENST00000398809.8:c.3839_3841del (CDH23) | ENSP00000381789.5:p.Met1280del | |
| ENST00000616684.4:c.3842_3844del (CDH23) | ENSP00000482036.2:p.Met1281del | |
| ENST00000622827.4:c.3842_3844del (CDH23) | ENSP00000483211.1:p.Met1281del | |
| NM_001168390.1:c.-6+5617_-6+5619del (C10orf105) | NP_001161862.1:n.-6+5617_-6+5619del | |
| NM_001171930.1:c.3842_3844del (CDH23) | NP_001165401.1:p.Met1281del | |
| NM_022124.5:c.3842_3844del (CDH23) | NP_071407.4:p.Met1281del | |
| XM_006717940.2:c.4037_4039del (CDH23) | XP_006718003.1:p.Met1346del | |
| XM_006717942.2:c.3971_3973del (CDH23) | XP_006718005.1:p.Met1324del | |
| XM_011540039.1:c.4037_4039del (CDH23) | XP_011538341.1:p.Met1346del | |
| XM_011540040.1:c.4031_4033del (CDH23) | XP_011538342.1:p.Met1344del | |
| XM_011540041.1:c.3977_3979del (CDH23) | XP_011538343.1:p.Met1326del | |
| XM_011540042.1:c.4037_4039del (CDH23) | XP_011538344.1:p.Met1346del | |
| XM_011540043.1:c.4037_4039del (CDH23) | XP_011538345.1:p.Met1346del | |
| XM_011540044.1:c.3902_3904del (CDH23) | XP_011538346.1:p.Met1301del | |
| XM_011540045.1:c.4037_4039del (CDH23) | XP_011538347.1:p.Met1346del | |
| XM_011540046.1:c.3497_3499del (CDH23) | XP_011538348.1:p.Met1166del | |
| XM_011540047.1:c.2855_2857del (CDH23) | XP_011538349.1:p.Met952del | |
| XM_011540048.1:c.4037_4039del (CDH23) | XP_011538350.1:p.Met1346del | |
| XM_011540049.1:c.4037_4039del (CDH23) | XP_011538351.1:p.Met1346del | |
| XM_011540050.1:c.4037_4039del (CDH23) | XP_011538352.1:p.Met1346del | |
| XM_011540051.1:c.4037_4039del (CDH23) | XP_011538353.1:p.Met1346del | |
| XM_011540052.1:c.365_367del (CDH23) | XP_011538354.1:p.Met122del | |
| XM_011540053.1:c.4037_4039del (CDH23) | XP_011538355.1:p.Met1346del | |
| XR_945796.1:n.4280_4282del (CDH23) | ||
| NM_001168390.2:c.-6+5617_-6+5619del (C10orf105) | NP_001161862.1:n.-6+5617_-6+5619del | |
| NM_001171930.2:c.3842_3844del (CDH23) | NP_001165401.1:p.Met1281del | |
| NM_022124.6:c.3842_3844del (CDH23) MANE Select | NP_071407.4:p.Met1281del |