Linked Data
ClinVar Variation Id:
3065219
ClinVar RCV Id:
RCV003990296
gnomAD v4:
21-36461050-CAGCTGGT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.36461051_36461057del , CM000683.2:g.36461051_36461057del | GRCh38 |
| NC_000021.8:g.37833349_37833355del , CM000683.1:g.37833349_37833355del | GRCh37 |
| NC_000021.7:g.36755219_36755225del | NCBI36 |
| NG_011777.1:g.120513_120519del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399135.6:c.639_645del (CLDN14) MANE Select | ENSP00000382087.1:p.Ala215ThrfsTer9 | |
| ENST00000342108.2:c.639_645del (CLDN14) | ENSP00000339292.2:p.Ala215ThrfsTer9 | |
| ENST00000399135.5:c.639_645del (CLDN14) | ENSP00000382087.1:p.Ala215ThrfsTer9 | |
| ENST00000399136.5:c.639_645del (CLDN14) | ENSP00000382088.1:p.Ala215ThrfsTer9 | |
| ENST00000399137.5:c.639_645del (CLDN14) | ENSP00000382090.1:p.Ala215ThrfsTer9 | |
| ENST00000399139.5:c.639_645del (CLDN14) | ENSP00000382092.1:p.Ala215ThrfsTer9 | |
| NM_001146077.1:c.639_645del (CLDN14) | NP_001139549.1:p.Ala215ThrfsTer9 | |
| NM_001146078.2:c.639_645del (CLDN14) | NP_001139550.1:p.Ala215ThrfsTer9 | |
| NM_001146079.1:c.639_645del (CLDN14) | NP_001139551.1:p.Ala215ThrfsTer9 | |
| NM_012130.3:c.639_645del (CLDN14) | NP_036262.1:p.Ala215ThrfsTer9 | |
| NM_144492.2:c.639_645del (CLDN14) | NP_652763.1:p.Ala215ThrfsTer9 | |
| XM_011529519.1:c.639_645del (CLDN14) | XP_011527821.1:p.Ala215ThrfsTer9 | |
| XR_937694.1:n.468+15044_468+15050del (CLDN14-AS1) | ||
| XR_937695.1:n.468+15044_468+15050del (CLDN14-AS1) | ||
| XR_937696.1:n.468+15044_468+15050del (CLDN14-AS1) | ||
| XR_001755025.1:n.468+15044_468+15050del (CLDN14-AS1) | ||
| NM_001146079.2:c.639_645del (CLDN14) MANE Select | NP_001139551.1:p.Ala215ThrfsTer9 | |
| NM_001146078.3:c.639_645del (CLDN14) | NP_001139550.1:p.Ala215ThrfsTer9 | |
| NM_012130.4:c.639_645del (CLDN14) | NP_036262.1:p.Ala215ThrfsTer9 | |
| NM_144492.3:c.639_645del (CLDN14) | NP_652763.1:p.Ala215ThrfsTer9 | |
| NM_001146077.2:c.639_645del (CLDN14) | NP_001139549.1:p.Ala215ThrfsTer9 |