Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.190322168_190322171del , CM000665.2:g.190322168_190322171del | GRCh38 |
| NC_000003.11:g.190039957_190039960del , CM000665.1:g.190039957_190039960del | GRCh37 |
| NC_000003.10:g.191522651_191522654del | NCBI36 |
| NG_021418.1:g.5276_5279del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295522.4:c.36_39del (CLDN1) MANE Select | ENSP00000295522.3:p.Ile12MetfsTer29 | |
| ENST00000295522.3:c.36_39del (CLDN1) | ENSP00000295522.3:p.Ile12MetfsTer29 | |
| NM_021101.4:c.36_39del (CLDN1) | NP_066924.1:p.Ile12MetfsTer29 | |
| NM_021101.5:c.36_39del (CLDN1) MANE Select | NP_066924.1:p.Ile12MetfsTer29 | |
| NM_001378492.1:c.-279+7109_-279+7112del (CLDN16) | NP_001365421.1:n.-279+7109_-279+7112del | |
| NM_001378493.1:c.-279+31577_-279+31580del (CLDN16) | NP_001365422.1:n.-279+31577_-279+31580del |