Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.190322122_190322126dup , CM000665.2:g.190322122_190322126dup | GRCh38 |
| NC_000003.11:g.190039911_190039915dup , CM000665.1:g.190039911_190039915dup | GRCh37 |
| NC_000003.10:g.191522605_191522609dup | NCBI36 |
| NG_021418.1:g.5321_5325dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295522.4:c.81_85dup (CLDN1) MANE Select | ENSP00000295522.3:p.Gln29ArgfsTer15 | |
| ENST00000295522.3:c.81_85dup (CLDN1) | ENSP00000295522.3:p.Gln29ArgfsTer15 | |
| NM_021101.4:c.81_85dup (CLDN1) | NP_066924.1:p.Gln29ArgfsTer15 | |
| NM_021101.5:c.81_85dup (CLDN1) MANE Select | NP_066924.1:p.Gln29ArgfsTer15 | |
| NM_001378492.1:c.-279+7063_-279+7067dup (CLDN16) | NP_001365421.1:n.-279+7063_-279+7067dup | |
| NM_001378493.1:c.-279+31531_-279+31535dup (CLDN16) | NP_001365422.1:n.-279+31531_-279+31535dup |