Linked Data
ClinVar Variation Id:
525360
ClinVar RCV Id:
RCV000629415
dbSNP Id:
rs1554050517
gnomAD v4:
5-13792120-C-CG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13792120_13792121insG , CM000667.2:g.13792120_13792121insG | GRCh38 |
| NC_000005.9:g.13792229_13792230insG , CM000667.1:g.13792229_13792230insG | GRCh37 |
| NC_000005.8:g.13845229_13845230insG | NCBI36 |
| NG_013081.1:g.157360_157361insC | |
| NG_013081.2:g.157360_157361insC |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000265104.5:c.8321_8322insC MANE Select | ENSP00000265104.4:p.Trp2774CysfsTer7 | |
| ENST00000681290.1:c.8276_8277insC | ENSP00000505288.1:p.Trp2759CysfsTer7 | |
| ENST00000265104.4:c.8321_8322insC | ENSP00000265104.4:p.Trp2774CysfsTer7 | |
| NM_001369.2:c.8321_8322insC | NP_001360.1:p.Trp2774CysfsTer7 | |
| XM_005248262.2:c.8276_8277insC | XP_005248319.1:p.Trp2759CysfsTer7 | |
| XM_011513990.1:c.8321_8322insC | XP_011512292.1:p.Trp2774CysfsTer7 | |
| XR_925598.1:n.8528_8529insC | ||
| XM_005248262.3:c.8429_8430insC | XP_005248319.2:p.Trp2810CysfsTer7 | |
| XM_017009177.1:c.8429_8430insC | XP_016864666.1:p.Trp2810CysfsTer7 | |
| XM_017009178.1:c.7334_7335insC | XP_016864667.1:p.Trp2445CysfsTer7 | |
| XM_017009179.2:c.7334_7335insC | XP_016864668.1:p.Trp2445CysfsTer7 | |
| XM_017009180.1:c.8429_8430insC | XP_016864669.1:p.Trp2810CysfsTer7 | |
| XM_017009181.1:c.8429_8430insC | XP_016864670.1:p.Trp2810CysfsTer7 | |
| XM_017009182.1:c.8429_8430insC | XP_016864671.1:p.Trp2810CysfsTer7 | |
| XM_017009183.1:c.8429_8430insC | XP_016864672.1:p.Trp2810CysfsTer7 | |
| XM_017009184.1:c.8429_8430insC | XP_016864673.1:p.Trp2810CysfsTer7 | |
| XM_017009185.1:c.3518_3519insC | XP_016864674.1:p.Trp1173CysfsTer7 | |
| XM_017009186.1:c.3071_3072insC | XP_016864675.1:p.Trp1024CysfsTer7 | |
| XM_017009188.1:c.2408_2409insC | XP_016864677.1:p.Trp803CysfsTer7 | |
| XM_024454388.1:c.7334_7335insC | XP_024310156.1:p.Trp2445CysfsTer7 | |
| XM_024454389.1:c.6923_6924insC | XP_024310157.1:p.Trp2308CysfsTer7 | |
| XR_001742034.1:n.8446_8447insC | ||
| XR_001742035.1:n.8446_8447insC | ||
| NM_001369.3:c.8321_8322insC MANE Select | NP_001360.1:p.Trp2774CysfsTer7 |