Linked Data
ClinVar Variation Id:
1600061
ClinVar RCV Id:
RCV002132116
dbSNP Id:
rs367575555
ExAC:
8:94770690 AT / A
gnomAD v2:
8-94770690-AT-A
gnomAD v3:
8-93758462-AT-A
gnomAD v4:
8-93758462-AT-A
COSMIC:
COSN1369964
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.93758470del , CM000670.2:g.93758470del | GRCh38 |
| NC_000008.10:g.94770698del , CM000670.1:g.94770698del | GRCh37 |
| NC_000008.9:g.94839874del | NCBI36 |
| NG_009190.1:g.8627del , LRG_688:g.8627del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000323130.8:c.313-13del | ENSP00000314488.4:n.313-13del | |
| ENST00000409623.8:c.313-13del | ENSP00000386966.4:n.313-13del | |
| ENST00000452276.6:c.313-13del | ENSP00000388671.2:n.313-13del | |
| ENST00000453906.6:c.313-13del | ENSP00000403035.2:n.313-13del | |
| ENST00000520680.2:c.313-13del | ENSP00000428785.2:n.313-13del | |
| ENST00000521065.2:c.313-13del | ENSP00000427947.2:n.313-13del | |
| ENST00000521517.6:c.313-13del | ENSP00000430740.2:n.313-13del | |
| ENST00000681998.1:c.313-13del | ENSP00000506773.1:n.313-13del | |
| ENST00000682036.1:c.313-13del | ENSP00000508390.1:n.313-13del | |
| ENST00000682577.1:c.313-13del | ENSP00000506963.1:n.313-13del | |
| ENST00000682624.1:c.224-13del | ENSP00000508343.1:n.224-13del | |
| ENST00000682700.1:c.313-13del | ENSP00000507627.1:n.313-13del | |
| ENST00000682804.1:n.206-13del | ||
| ENST00000682837.1:c.313-13del | ENSP00000507920.1:n.313-13del | |
| ENST00000682935.1:n.313-13del | ||
| ENST00000682984.1:c.312+2604del | ENSP00000507209.1:n.312+2604del | |
| ENST00000683078.1:c.313-13del | ENSP00000506796.1:n.313-13del | |
| ENST00000683223.1:c.224-13del | ENSP00000507685.1:n.224-13del | |
| ENST00000683238.1:n.134-13del | ||
| ENST00000683249.1:n.334-13del | ||
| ENST00000683336.1:c.313-13del | ENSP00000507695.1:n.313-13del | |
| ENST00000683362.1:c.312+2604del | ENSP00000506985.1:n.312+2604del | |
| ENST00000683850.1:n.236-13del | ||
| ENST00000683919.1:c.313-13del | ENSP00000507617.1:n.313-13del | |
| ENST00000683953.1:c.224-13del | ENSP00000508375.1:n.224-13del | |
| ENST00000684023.1:c.313-13del | ENSP00000507461.1:n.313-13del | |
| ENST00000684064.1:c.4-13del | ENSP00000508192.1:n.4-13del | |
| ENST00000684089.1:n.303-13del | ||
| ENST00000684149.1:c.313-13del | ENSP00000507943.1:n.313-13del | |
| ENST00000684416.1:n.142-17del | ||
| ENST00000684540.1:c.313-13del | ENSP00000507987.1:n.313-13del | |
| ENST00000684733.1:n.248-13del | ||
| ENST00000453321.8:c.313-13del MANE Select | ENSP00000389998.3:n.313-13del | |
| ENST00000323130.7:c.283-13del | ENSP00000314488.3:n.283-13del | |
| ENST00000409623.7:c.-61-17del | ENSP00000386966.3:n.-61-17del | |
| ENST00000452276.5:c.4-13del | ENSP00000388671.1:n.4-13del | |
| ENST00000453321.7:c.313-13del | ENSP00000389998.3:n.313-13del | |
| ENST00000453906.5:c.313-13del | ENSP00000403035.1:n.313-13del | |
| ENST00000455946.5:c.313-13del | ENSP00000416339.1:n.313-13del | |
| ENST00000474944.5:n.333-13del | ||
| ENST00000475305.1:n.322-13del | ||
| ENST00000498673.5:c.-168-13del | ENSP00000430232.1:n.-168-13del | |
| ENST00000518319.5:c.-203-17del | ENSP00000430289.1:n.-203-17del | |
| ENST00000521065.1:c.219-13del | ||
| ENST00000521222.5:c.313-17del | ENSP00000429925.1:n.313-17del | |
| ENST00000521517.5:c.305-13del | ||
| NM_001142301.1:c.-61-17del , LRG_688t2:c.-61-17del | NP_001135773.1:n.-61-17del | |
| NM_153704.5:c.313-13del , LRG_688t1:c.313-13del | NP_714915.3:n.313-13del | |
| NR_024522.1:n.384-13del | ||
| XM_006716686.2:c.10-13del | XP_006716749.1:n.10-13del | |
| XM_011517363.1:c.313-13del | XP_011515665.1:n.313-13del | |
| XR_428387.1:n.371-13del | ||
| XR_928360.1:n.371-13del | ||
| XR_928361.1:n.371-13del | ||
| XR_928362.1:n.371-13del | ||
| XM_006716686.4:c.10-13del | XP_006716749.1:n.10-13del | |
| XM_011517363.3:c.313-13del | XP_011515665.1:n.313-13del | |
| XM_024447326.1:c.-97-13del | XP_024303094.1:n.-97-13del | |
| XR_001745619.2:n.354-13del | ||
| XR_428387.2:n.354-13del | ||
| XR_928360.3:n.354-13del | ||
| XR_928362.3:n.354-13del | ||
| NM_153704.6:c.313-13del MANE Select | NP_714915.3:n.313-13del | |
| NR_024522.2:n.334-13del |