Linked Data
dbSNP Id:
rs1427031717
gnomAD v4:
3-190310181-G-GGGGTCATA
MyVariant Identifiers:
chr3:g.190027970_190027971insGGGTCATA (hg19)
chr3:g.190310181_190310182insGGGTCATA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.190310191_190310198dup , CM000665.2:g.190310191_190310198dup | GRCh38 |
| NC_000003.11:g.190027980_190027987dup , CM000665.1:g.190027980_190027987dup | GRCh37 |
| NC_000003.10:g.191510674_191510681dup | NCBI36 |
| NG_021418.1:g.17258_17265dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295522.4:c.453_460dup (CLDN1) MANE Select | ENSP00000295522.3:p.Pro154LeufsTer2 | |
| ENST00000295522.3:c.453_460dup (CLDN1) | ENSP00000295522.3:p.Pro154LeufsTer2 | |
| ENST00000490800.1:n.412_419dup (CLDN1) | ||
| NM_021101.4:c.453_460dup (CLDN1) | NP_066924.1:p.Pro154LeufsTer2 | |
| XR_001741069.1:n.203-4702_203-4695dup | ||
| NM_021101.5:c.453_460dup (CLDN1) MANE Select | NP_066924.1:p.Pro154LeufsTer2 | |
| NM_001378492.1:c.-445-4702_-445-4695dup (CLDN16) | NP_001365421.1:n.-445-4702_-445-4695dup | |
| NM_001378493.1:c.-279+19600_-279+19607dup (CLDN16) | NP_001365422.1:n.-279+19600_-279+19607dup |