Linked Data
dbSNP Id:
rs780317388
ExAC:
9:37436722 T / TAAC
gnomAD v2:
9-37436722-T-TAAC
gnomAD v3:
9-37436725-T-TAAC
gnomAD v4:
9-37436725-T-TAAC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.37436729_37436731dup , CM000671.2:g.37436729_37436731dup | GRCh38 |
| NC_000009.11:g.37436726_37436728dup , CM000671.1:g.37436726_37436728dup | GRCh37 |
| NC_000009.10:g.37426726_37426728dup | NCBI36 |
| NG_008135.1:g.19020_19022dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000318158.11:c.934_936dup MANE Select | ENSP00000313432.6:p.Asn312_Leu313insAsn | |
| ENST00000318158.10:c.934_936dup | ENSP00000313432.6:p.Asn312_Leu313insAsn | |
| ENST00000460882.5:n.961_963dup | ||
| ENST00000480596.5:n.1635_1637dup | ||
| ENST00000494290.1:c.*52-152_*52-150dup | ENSP00000432021.1:n.*52-152_*52-150dup | |
| ENST00000497693.1:n.4502_4504dup | ||
| NM_012203.1:c.934_936dup | NP_036335.1:p.Asn312_Leu313insAsn | |
| XM_005251631.1:c.613_615dup | XP_005251688.1:p.Asn205_Leu206insAsn | |
| XM_011518073.1:c.532_534dup | XP_011516375.1:p.Asn178_Leu179insAsn | |
| XM_017015320.2:c.946-682_946-680dup | XP_016870809.1:n.946-682_946-680dup | |
| XM_017015321.2:c.866-682_866-680dup | XP_016870810.1:n.866-682_866-680dup | |
| XM_017015323.2:c.544-682_544-680dup | XP_016870812.1:n.544-682_544-680dup | |
| XM_024447716.1:c.1219-682_1219-680dup | XP_024303484.1:n.1219-682_1219-680dup | |
| XM_024447717.1:c.1139-682_1139-680dup | XP_024303485.1:n.1139-682_1139-680dup | |
| XR_002956828.1:n.1234-682_1234-680dup | ||
| XR_002956829.1:n.1154-682_1154-680dup | ||
| XR_002956830.1:n.2354_2356dup | ||
| XR_002956831.1:n.2029_2031dup | ||
| XR_002956832.1:n.1353_1355dup | ||
| NM_012203.2:c.934_936dup MANE Select | NP_036335.1:p.Asn312_Leu313insAsn |