Linked Data
ClinVar Variation Id:
404618
dbSNP Id:
rs1060500387
gnomAD v4:
17-31358565-CAG-C
COSMIC:
COSM39399
PubMed:
PMID:23913538
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.31358568_31358569del , CM000679.2:g.31358568_31358569del | GRCh38 |
| NC_000017.10:g.29685586_29685587del , CM000679.1:g.29685586_29685587del | GRCh37 |
| NC_000017.9:g.26709712_26709713del | NCBI36 |
| NG_009018.1:g.268592_268593del , LRG_214:g.268592_268593del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000696138.1:c.8041_8042del | ENSP00000512431.1:p.Ser2681CysfsTer5 | |
| ENST00000684826.1:c.2623_2624del | ENSP00000509994.1:p.Ser875CysfsTer5 | |
| ENST00000687027.1:c.2215_2216del | ENSP00000508715.1:p.Ser739CysfsTer5 | |
| ENST00000687863.1:n.4704_4705del | ||
| ENST00000689464.1:c.1109_1110del | ||
| ENST00000691014.1:c.8089_8090del | ENSP00000510595.1:p.Ser2697CysfsTer5 | |
| ENST00000693617.1:c.2623_2624del | ENSP00000510031.1:p.Ser875CysfsTer5 | |
| ENST00000358273.9:c.8059_8060del MANE Select | ENSP00000351015.4:p.Ser2687CysfsTer5 | |
| ENST00000356175.7:c.7996_7997del | ENSP00000348498.3:p.Ser2666CysfsTer5 | |
| ENST00000358273.8:c.8059_8060del | ENSP00000351015.4:p.Ser2687CysfsTer5 | |
| ENST00000456735.6:c.6994_6995del | ENSP00000389907.2:p.Ser2332CysfsTer5 | |
| ENST00000468273.1:c.21_22del | ||
| ENST00000471572.6:c.1442_1443del | ||
| ENST00000577967.1:n.2765_2766del | ||
| ENST00000579081.5:c.8195_8196del | ENSP00000462408.1:n.8195_8196del | |
| ENST00000581790.5:c.1044_1045del | ||
| NM_000267.3:c.7996_7997del , LRG_214t1:c.7996_7997del | NP_000258.1:p.Ser2666CysfsTer5 | |
| NM_001042492.2:c.8059_8060del , LRG_214t2:c.8059_8060del | NP_001035957.1:p.Ser2687CysfsTer5 | |
| XM_005257983.1:c.8059_8060del | XP_005258040.1:p.Ser2687CysfsTer5 | |
| XM_005257984.1:c.7996_7997del | XP_005258041.1:p.Ser2666CysfsTer5 | |
| XM_006721922.1:c.8089_8090del | XP_006721985.1:p.Ser2697CysfsTer5 | |
| XM_006721923.2:c.8050_8051del | XP_006721986.1:p.Ser2684CysfsTer5 | |
| XM_006721924.1:c.8089_8090del | XP_006721987.1:p.Ser2697CysfsTer5 | |
| XM_006721925.1:c.8026_8027del | XP_006721988.1:p.Ser2676CysfsTer5 | |
| XM_006721926.2:c.8089_8090del | XP_006721989.1:p.Ser2697CysfsTer5 | |
| XM_006721927.1:c.8089_8090del | XP_006721990.1:p.Ser2697CysfsTer5 | |
| XM_011524852.1:c.8086_8087del | XP_011523154.1:p.Ser2696CysfsTer5 | |
| XM_011524853.1:c.8050_8051del | XP_011523155.1:p.Ser2684CysfsTer5 | |
| XM_011524854.1:c.8050_8051del | XP_011523156.1:p.Ser2684CysfsTer5 | |
| XM_011524855.1:c.8050_8051del | XP_011523157.1:p.Ser2684CysfsTer5 | |
| XM_011524856.1:c.8050_8051del | XP_011523158.1:p.Ser2684CysfsTer5 | |
| XM_011524857.1:c.7966_7967del | XP_011523159.1:p.Ser2656CysfsTer5 | |
| NM_001042492.3:c.8059_8060del MANE Select | NP_001035957.1:p.Ser2687CysfsTer5 |