Linked Data
dbSNP Id:
rs1161318932
gnomAD v3:
6-35823382-T-TACATACACACACAC
gnomAD v4:
6-35823382-T-TACATACACACACAC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.35823383_35823384insCATACACACACACA , CM000668.2:g.35823383_35823384insCATACACACACACA | GRCh38 |
| NC_000006.11:g.35791160_35791161insCATACACACACACA , CM000668.1:g.35791160_35791161insCATACACACACACA | GRCh37 |
| NC_000006.10:g.35899138_35899139insCATACACACACACA | NCBI36 |
| NG_012184.1:g.23090_23091insCATACACACACACA | |
| NG_012184.2:g.23090_23091insCATACACACACACA | |
| NG_012184.3:g.31178_31179insCATACACACACACA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360215.3:c.*418_*419insCATACACACACACA MANE Select | ENSP00000353346.1:n.*418_*419insCATACACACACACA | |
| ENST00000496656.2:n.578+3563_578+3564insCATACACACACACA | ||
| ENST00000651132.1:c.*418_*419insCATACACACACACA | ENSP00000498322.1:n.*418_*419insCATACACACACACA | |
| ENST00000651676.1:c.*16+3920_*16+3921insCATACACACACACA | ENSP00000498699.1:n.*16+3920_*16+3921insCATACACACACACA | |
| ENST00000651994.1:c.*498_*499insCATACACACACACA | ENSP00000498310.1:n.*498_*499insCATACACACACACA | |
| ENST00000652718.1:c.508+3920_508+3921insCATACACACACACA | ENSP00000498866.1:n.508+3920_508+3921insCATACACACACACA | |
| ENST00000360215.2:c.*418_*419insCATACACACACACA | ENSP00000353346.1:n.*418_*419insCATACACACACACA | |
| ENST00000496656.1:n.812+3563_812+3564insCATACACACACACA | ||
| NM_182548.3:c.*418_*419insCATACACACACACA | NP_872354.1:n.*418_*419insCATACACACACACA | |
| XM_011514403.1:c.*418_*419insCATACACACACACA | XP_011512705.1:n.*418_*419insCATACACACACACA | |
| NM_182548.4:c.*418_*419insCATACACACACACA MANE Select | NP_872354.1:n.*418_*419insCATACACACACACA |