Linked Data
gnomAD v4:
3-190310243-AATAGCCAGACCT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.190310248_190310259del , CM000665.2:g.190310248_190310259del | GRCh38 |
| NC_000003.11:g.190028037_190028048del , CM000665.1:g.190028037_190028048del | GRCh37 |
| NC_000003.10:g.191510731_191510742del | NCBI36 |
| NG_021418.1:g.17192_17203del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295522.4:c.389-2_398del (CLDN1) | ||
| ENST00000295522.3:c.389-2_398del (CLDN1) | ||
| ENST00000490800.1:n.348-2_357del (CLDN1) | ||
| NM_021101.4:c.389-2_398del (CLDN1) | ||
| XR_001741069.1:n.203-4645_203-4634del | ||
| NM_021101.5:c.389-2_398del (CLDN1) | ||
| NM_001378492.1:c.-445-4645_-445-4634del (CLDN16) | NP_001365421.1:n.-445-4645_-445-4634del | |
| NM_001378493.1:c.-279+19657_-279+19668del (CLDN16) | NP_001365422.1:n.-279+19657_-279+19668del |