Linked Data
dbSNP Id:
rs1276171432
gnomAD v3:
17-64500479-AC-A
gnomAD v4:
17-64500479-AC-A
MyVariant Identifiers:
chr17:g.64500480del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.64500481del , CM000679.2:g.64500481del | GRCh38 |
| NC_000017.10:g.62496599del , CM000679.1:g.62496599del | GRCh37 |
| NC_000017.9:g.59927061del | NCBI36 |
| NG_013029.1:g.1587del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225792.10:c.1441+69del MANE Select | ENSP00000225792.5:n.1441+69del | |
| ENST00000450599.7:c.1441+69del | ENSP00000403085.3:n.1441+69del | |
| ENST00000577922.6:c.1441+69del | ENSP00000464337.2:n.1441+69del | |
| ENST00000578491.2:n.3030del | ||
| ENST00000579461.2:n.3585del | ||
| ENST00000580026.6:n.2838+69del | ||
| ENST00000582326.2:n.4496del | ||
| ENST00000583212.2:c.1126+69del | ENSP00000463903.2:n.1126+69del | |
| ENST00000585111.2:c.1441+69del | ENSP00000463168.2:n.1441+69del | |
| ENST00000585317.2:n.3648+69del | ||
| ENST00000676575.1:n.2961+69del | ||
| ENST00000676581.1:c.*191+69del | ENSP00000504407.1:n.*191+69del | |
| ENST00000676601.1:c.*456+69del | ENSP00000504708.1:n.*456+69del | |
| ENST00000676785.1:c.1441+69del | ENSP00000504794.1:n.1441+69del | |
| ENST00000676969.1:n.2213+69del | ||
| ENST00000677726.1:c.*1056+69del | ENSP00000504260.1:n.*1056+69del | |
| ENST00000678110.1:n.3138+69del | ||
| ENST00000678757.1:c.*191+69del | ENSP00000504731.1:n.*191+69del | |
| ENST00000678810.1:n.3272+69del | ||
| ENST00000678814.1:c.*277+69del | ENSP00000503045.1:n.*277+69del | |
| ENST00000678890.1:n.3465+69del | ||
| ENST00000225792.9:c.1441+69del | ENSP00000225792.5:n.1441+69del | |
| ENST00000450599.6:c.1204+69del | ENSP00000403085.2:n.1204+69del | |
| ENST00000540698.6:c.*1053+69del | ENSP00000440276.2:n.*1053+69del | |
| ENST00000578758.5:n.474+69del | ||
| ENST00000578804.5:c.1441+69del | ENSP00000462885.1:n.1441+69del | |
| ENST00000580026.5:n.954+69del | ||
| ENST00000581230.5:n.2847+69del | ||
| ENST00000581237.2:n.450+69del | ||
| ENST00000581693.5:c.*1158+69del | ENSP00000464566.1:n.*1158+69del | |
| NM_004396.3:c.1441+69del | NP_004387.1:n.1441+69del | |
| XM_005257111.1:c.1441+69del | XP_005257168.1:n.1441+69del | |
| XM_006721738.1:c.1441+69del | XP_006721801.1:n.1441+69del | |
| XM_011524456.1:c.1441+69del | XP_011522758.1:n.1441+69del | |
| XM_011524457.1:c.1217-154del | XP_011522759.1:n.1217-154del | |
| NM_001320595.1:c.1441+69del | NP_001307524.1:n.1441+69del | |
| NM_001320596.2:c.1441+69del | NP_001307525.1:n.1441+69del | |
| NM_001320597.1:c.1441+69del | NP_001307526.1:n.1441+69del | |
| NM_004396.4:c.1441+69del | NP_004387.1:n.1441+69del | |
| NM_001320595.2:c.1441+69del | NP_001307524.1:n.1441+69del | |
| NM_001320597.2:c.1441+69del | NP_001307526.1:n.1441+69del | |
| NM_004396.5:c.1441+69del MANE Select | NP_004387.1:n.1441+69del | |
| NM_001320596.3:c.1441+69del | NP_001307525.1:n.1441+69del |