Linked Data
ClinVar Variation Id:
542361
dbSNP Id:
rs3075570
gnomAD v2:
5-140953563-T-TGGAGGAGGA
gnomAD v3:
5-141573996-T-TGGAGGAGGA
gnomAD v4:
5-141573996-T-TGGAGGAGGA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.141574022_141574030dup , CM000667.2:g.141574022_141574030dup | GRCh38 |
| NC_000005.9:g.140953589_140953597dup , CM000667.1:g.140953589_140953597dup | GRCh37 |
| NC_000005.8:g.140933773_140933781dup | NCBI36 |
| NG_011594.1:g.50051_50059dup | |
| NG_011594.2:g.50051_50059dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389054.8:c.1845_1853dup MANE Select | ENSP00000373706.4:p.Pro618_Pro619insProProPro | |
| ENST00000647433.1:c.1845_1853dup | ENSP00000494675.1:p.Pro618_Pro619insProProPro | |
| ENST00000253811.10:c.1713_1721dup | ENSP00000253811.7:p.Pro574_Pro575insProProPro | |
| ENST00000389054.7:c.1845_1853dup | ENSP00000373706.4:p.Pro618_Pro619insProProPro | |
| ENST00000389057.9:c.1818_1826dup | ENSP00000373709.6:p.Pro609_Pro610insProProPro | |
| ENST00000398557.8:c.1845_1853dup | ENSP00000381565.5:p.Pro618_Pro619insProProPro | |
| ENST00000518047.5:c.1818_1826dup | ENSP00000428268.2:p.Pro609_Pro610insProProPro | |
| NM_001079812.2:c.1818_1826dup | NP_001073280.1:p.Pro609_Pro610insProProPro | |
| NM_001314007.1:c.1845_1853dup | NP_001300936.1:p.Pro618_Pro619insProProPro | |
| NM_005219.4:c.1845_1853dup | NP_005210.3:p.Pro618_Pro619insProProPro | |
| XM_011537572.1:c.1809_1817dup | XP_011535874.1:p.Pro606_Pro607insProProPro | |
| XM_011537573.1:c.1779_1787dup | XP_011535875.1:p.Pro596_Pro597insProProPro | |
| XM_024454384.1:c.1845_1853dup | XP_024310152.1:p.Pro618_Pro619insProProPro | |
| XM_024454385.1:c.1818_1826dup | XP_024310153.1:p.Pro609_Pro610insProProPro | |
| XM_024454386.1:c.1809_1817dup | XP_024310154.1:p.Pro606_Pro607insProProPro | |
| XM_024454387.1:c.1779_1787dup | XP_024310155.1:p.Pro596_Pro597insProProPro | |
| NM_005219.5:c.1845_1853dup MANE Select | NP_005210.3:p.Pro618_Pro619insProProPro | |
| NM_001079812.3:c.1818_1826dup | NP_001073280.1:p.Pro609_Pro610insProProPro | |
| NM_001314007.2:c.1845_1853dup | NP_001300936.1:p.Pro618_Pro619insProProPro |