Linked Data
dbSNP Id:
rs1481516524
gnomAD v2:
6-35791634-CA-C
gnomAD v3:
6-35823857-CA-C
gnomAD v4:
6-35823857-CA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.35823858del , CM000668.2:g.35823858del | GRCh38 |
| NC_000006.11:g.35791635del , CM000668.1:g.35791635del | GRCh37 |
| NC_000006.10:g.35899613del | NCBI36 |
| NG_012184.1:g.23565del | |
| NG_012184.2:g.23565del | |
| NG_012184.3:g.31653del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360215.3:c.*893del MANE Select | ENSP00000353346.1:n.*893del | |
| ENST00000496656.2:n.578+4038del | ||
| ENST00000651132.1:c.*893del | ENSP00000498322.1:n.*893del | |
| ENST00000651676.1:c.*16+4395del | ENSP00000498699.1:n.*16+4395del | |
| ENST00000651994.1:c.*973del | ENSP00000498310.1:n.*973del | |
| ENST00000652718.1:c.508+4395del | ENSP00000498866.1:n.508+4395del | |
| ENST00000360215.2:c.*893del | ENSP00000353346.1:n.*893del | |
| ENST00000496656.1:n.812+4038del | ||
| NM_182548.3:c.*893del | NP_872354.1:n.*893del | |
| NM_182548.4:c.*893del MANE Select | NP_872354.1:n.*893del |