Linked Data
dbSNP Id:
rs888436341
gnomAD v2:
17-40723600-AT-A
gnomAD v3:
17-42571582-AT-A
gnomAD v4:
17-42571582-AT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42571584del , CM000679.2:g.42571584del | GRCh38 |
| NC_000017.10:g.40723602del , CM000679.1:g.40723602del | GRCh37 |
| NC_000017.9:g.37977128del | NCBI36 |
| NG_029442.1:g.9525del | |
| NG_031960.1:g.11249del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000435881.7:c.716del MANE Select | ENSP00000416627.1:p.Leu239Ter | |
| ENST00000246912.8:c.878del | ENSP00000246912.3:p.Leu293Ter | |
| ENST00000346833.8:c.626del | ENSP00000320913.3:p.Leu209Ter | |
| ENST00000435881.6:c.716del | ENSP00000416627.1:p.Leu239Ter | |
| ENST00000585403.5:n.923del | ||
| ENST00000588320.1:n.1192del | ||
| ENST00000590050.5:n.882del | ||
| NM_170607.2:c.878del | NP_733752.1:p.Leu293Ter | |
| NM_198204.1:c.716del | NP_937847.1:p.Leu239Ter | |
| NM_198205.1:c.626del | NP_937848.1:p.Leu209Ter | |
| NM_198204.2:c.716del MANE Select | NP_937847.1:p.Leu239Ter | |
| NM_170607.3:c.878del | NP_733752.1:p.Leu293Ter | |
| NM_198205.2:c.626del | NP_937848.1:p.Leu209Ter |