Linked Data
ClinVar Variation Id:
351294
dbSNP Id:
rs3075570
ExAC:
5:140953563 TGGAGGA / T
gnomAD v2:
5-140953563-TGGAGGA-T
gnomAD v3:
5-141573996-TGGAGGA-T
gnomAD v4:
5-141573996-TGGAGGA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.141574025_141574030del , CM000667.2:g.141574025_141574030del | GRCh38 |
| NC_000005.9:g.140953592_140953597del , CM000667.1:g.140953592_140953597del | GRCh37 |
| NC_000005.8:g.140933776_140933781del | NCBI36 |
| NG_011594.1:g.50054_50059del | |
| NG_011594.2:g.50054_50059del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389054.8:c.1848_1853del MANE Select | ENSP00000373706.4:p.Pro617_Pro618del | |
| ENST00000647433.1:c.1848_1853del | ENSP00000494675.1:p.Pro617_Pro618del | |
| ENST00000253811.10:c.1716_1721del | ENSP00000253811.7:p.Pro573_Pro574del | |
| ENST00000389054.7:c.1848_1853del | ENSP00000373706.4:p.Pro617_Pro618del | |
| ENST00000389057.9:c.1821_1826del | ENSP00000373709.6:p.Pro608_Pro609del | |
| ENST00000398557.8:c.1848_1853del | ENSP00000381565.5:p.Pro617_Pro618del | |
| ENST00000518047.5:c.1821_1826del | ENSP00000428268.2:p.Pro608_Pro609del | |
| NM_001079812.2:c.1821_1826del | NP_001073280.1:p.Pro608_Pro609del | |
| NM_001314007.1:c.1848_1853del | NP_001300936.1:p.Pro617_Pro618del | |
| NM_005219.4:c.1848_1853del | NP_005210.3:p.Pro617_Pro618del | |
| XM_011537572.1:c.1812_1817del | XP_011535874.1:p.Pro605_Pro606del | |
| XM_011537573.1:c.1782_1787del | XP_011535875.1:p.Pro595_Pro596del | |
| XM_024454384.1:c.1848_1853del | XP_024310152.1:p.Pro617_Pro618del | |
| XM_024454385.1:c.1821_1826del | XP_024310153.1:p.Pro608_Pro609del | |
| XM_024454386.1:c.1812_1817del | XP_024310154.1:p.Pro605_Pro606del | |
| XM_024454387.1:c.1782_1787del | XP_024310155.1:p.Pro595_Pro596del | |
| NM_005219.5:c.1848_1853del MANE Select | NP_005210.3:p.Pro617_Pro618del | |
| NM_001079812.3:c.1821_1826del | NP_001073280.1:p.Pro608_Pro609del | |
| NM_001314007.2:c.1848_1853del | NP_001300936.1:p.Pro617_Pro618del |