Linked Data
ClinVar Variation Id:
847719
ClinVar RCV Id:
RCV001051320
dbSNP Id:
rs2040267666
gnomAD v4:
17-12993031-GTC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.12993034_12993035del , CM000679.2:g.12993034_12993035del | GRCh38 |
| NC_000017.10:g.12896351_12896352del , CM000679.1:g.12896351_12896352del | GRCh37 |
| NC_000017.9:g.12837076_12837077del | NCBI36 |
| NG_015808.1:g.30032_30033del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000338034.9:c.2266_2267del MANE Select | ENSP00000337445.4:p.Asp756LeufsTer? | |
| ENST00000338034.8:c.2266_2267del | ENSP00000337445.4:p.Asp756LeufsTer? | |
| ENST00000395962.6:c.2209_2210del | ENSP00000379291.1:p.Asp737LeufsTer? | |
| ENST00000426905.7:c.2146_2147del | ENSP00000405223.3:p.Asp716LeufsTer? | |
| ENST00000465825.5:n.2153_2154del | ||
| ENST00000480891.5:n.2095_2096del | ||
| ENST00000484122.5:n.3096_3097del | ||
| ENST00000487229.6:n.1812_1813del | ||
| ENST00000584650.5:c.1665_1666del | ||
| NM_001165962.1:c.2146_2147del | NP_001159434.1:p.Asp716LeufsTer? | |
| NM_018127.6:c.2266_2267del | NP_060597.4:p.Asp756LeufsTer? | |
| NM_173717.1:c.2263_2264del | NP_776065.1:p.Asp755LeufsTer? | |
| XM_024450850.1:c.2425_2426del | XP_024306618.1:p.Asp809LeufsTer? | |
| XM_024450851.1:c.2347_2348del | XP_024306619.1:p.Asp783LeufsTer? | |
| XM_024450852.1:c.2344_2345del | XP_024306620.1:p.Asp782LeufsTer? | |
| XM_024450853.1:c.2341_2342del | XP_024306621.1:p.Asp781LeufsTer? | |
| XM_024450854.1:c.2305_2306del | XP_024306622.1:p.Asp769LeufsTer? | |
| XM_024450855.1:c.2224_2225del | XP_024306623.1:p.Asp742LeufsTer? | |
| XM_024450856.1:c.2143_2144del | XP_024306624.1:p.Asp715LeufsTer? | |
| XM_024450857.1:c.2143_2144del | XP_024306625.1:p.Asp715LeufsTer? | |
| XM_024450858.1:c.2062_2063del | XP_024306626.1:p.Asp688LeufsTer? | |
| XM_024450859.1:c.2059_2060del | XP_024306627.1:p.Asp687LeufsTer? | |
| XM_024450860.1:c.1984_1985del | XP_024306628.1:p.Asp662LeufsTer? | |
| XM_024450861.1:c.1984_1985del | XP_024306629.1:p.Asp662LeufsTer? | |
| XM_024450862.1:c.1981_1982del | XP_024306630.1:p.Asp661LeufsTer? | |
| NM_018127.7:c.2266_2267del MANE Select | NP_060597.4:p.Asp756LeufsTer? | |
| NM_001165962.2:c.2146_2147del | NP_001159434.1:p.Asp716LeufsTer? | |
| NM_173717.2:c.2263_2264del | NP_776065.1:p.Asp755LeufsTer? |