Linked Data
dbSNP Id:
rs1768907364
gnomAD v3:
6-35823412-CACACACACACACA-C
gnomAD v4:
6-35823412-CACACACACACACA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.35823413_35823425del , CM000668.2:g.35823413_35823425del | GRCh38 |
| NC_000006.11:g.35791190_35791202del , CM000668.1:g.35791190_35791202del | GRCh37 |
| NC_000006.10:g.35899168_35899180del | NCBI36 |
| NG_012184.1:g.23120_23132del | |
| NG_012184.2:g.23120_23132del | |
| NG_012184.3:g.31208_31220del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360215.3:c.*448_*460del MANE Select | ENSP00000353346.1:n.*448_*460del | |
| ENST00000496656.2:n.578+3593_578+3605del | ||
| ENST00000651132.1:c.*448_*460del | ENSP00000498322.1:n.*448_*460del | |
| ENST00000651676.1:c.*16+3950_*16+3962del | ENSP00000498699.1:n.*16+3950_*16+3962del | |
| ENST00000651994.1:c.*528_*540del | ENSP00000498310.1:n.*528_*540del | |
| ENST00000652718.1:c.508+3950_508+3962del | ENSP00000498866.1:n.508+3950_508+3962del | |
| ENST00000360215.2:c.*448_*460del | ENSP00000353346.1:n.*448_*460del | |
| ENST00000496656.1:n.812+3593_812+3605del | ||
| NM_182548.3:c.*448_*460del | NP_872354.1:n.*448_*460del | |
| NM_182548.4:c.*448_*460del MANE Select | NP_872354.1:n.*448_*460del |