Linked Data
ClinVar Variation Id:
454726
dbSNP Id:
rs773869600
ExAC:
5:13753496 ATAG / A
gnomAD v2:
5-13753496-ATAG-A
gnomAD v3:
5-13753387-ATAG-A
gnomAD v4:
5-13753387-ATAG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13753391_13753393del , CM000667.2:g.13753391_13753393del | GRCh38 |
| NC_000005.9:g.13753500_13753502del , CM000667.1:g.13753500_13753502del | GRCh37 |
| NC_000005.8:g.13806500_13806502del | NCBI36 |
| NG_013081.1:g.196091_196093del | |
| NG_013081.2:g.196091_196093del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265104.5:c.10715_10717del MANE Select | ENSP00000265104.4:p.Thr3572del | |
| ENST00000681290.1:c.10670_10672del | ENSP00000505288.1:p.Thr3557del | |
| ENST00000265104.4:c.10715_10717del | ENSP00000265104.4:p.Thr3572del | |
| NM_001369.2:c.10715_10717del | NP_001360.1:p.Thr3572del | |
| XM_005248262.2:c.10670_10672del | XP_005248319.1:p.Thr3557del | |
| XM_005248262.3:c.10823_10825del | XP_005248319.2:p.Thr3608del | |
| XM_017009177.1:c.10823_10825del | XP_016864666.1:p.Thr3608del | |
| XM_017009178.1:c.9728_9730del | XP_016864667.1:p.Thr3243del | |
| XM_017009179.2:c.9728_9730del | XP_016864668.1:p.Thr3243del | |
| XM_017009180.1:c.10823_10825del | XP_016864669.1:p.Thr3608del | |
| XM_017009181.1:c.10823_10825del | XP_016864670.1:p.Thr3608del | |
| XM_017009182.1:c.10823_10825del | XP_016864671.1:p.Thr3608del | |
| XM_017009185.1:c.5912_5914del | XP_016864674.1:p.Thr1971del | |
| XM_017009186.1:c.5465_5467del | XP_016864675.1:p.Thr1822del | |
| XM_017009188.1:c.4802_4804del | XP_016864677.1:p.Thr1601del | |
| XM_024454388.1:c.9728_9730del | XP_024310156.1:p.Thr3243del | |
| XM_024454389.1:c.9317_9319del | XP_024310157.1:p.Thr3106del | |
| NM_001369.3:c.10715_10717del MANE Select | NP_001360.1:p.Thr3572del |