Linked Data
dbSNP Id:
rs67626900
gnomAD v2:
6-35791165-TACACACAC-T
gnomAD v3:
6-35823388-TACACACAC-T
gnomAD v4:
6-35823388-TACACACAC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.35823418_35823425del , CM000668.2:g.35823418_35823425del | GRCh38 |
| NC_000006.11:g.35791195_35791202del , CM000668.1:g.35791195_35791202del | GRCh37 |
| NC_000006.10:g.35899173_35899180del | NCBI36 |
| NG_012184.1:g.23125_23132del | |
| NG_012184.2:g.23125_23132del | |
| NG_012184.3:g.31213_31220del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360215.3:c.*453_*460del MANE Select | ENSP00000353346.1:n.*453_*460del | |
| ENST00000496656.2:n.578+3598_578+3605del | ||
| ENST00000651132.1:c.*453_*460del | ENSP00000498322.1:n.*453_*460del | |
| ENST00000651676.1:c.*16+3955_*16+3962del | ENSP00000498699.1:n.*16+3955_*16+3962del | |
| ENST00000651994.1:c.*533_*540del | ENSP00000498310.1:n.*533_*540del | |
| ENST00000652718.1:c.508+3955_508+3962del | ENSP00000498866.1:n.508+3955_508+3962del | |
| ENST00000360215.2:c.*453_*460del | ENSP00000353346.1:n.*453_*460del | |
| ENST00000496656.1:n.812+3598_812+3605del | ||
| NM_182548.3:c.*453_*460del | NP_872354.1:n.*453_*460del | |
| NM_182548.4:c.*453_*460del MANE Select | NP_872354.1:n.*453_*460del |