Linked Data
ClinVar Variation Id:
8319
ClinVar RCV Id:
RCV000008820
dbSNP Id:
rs869320729
MyVariant Identifiers:
chr3:g.122003042_122003043delinsT (hg19)
chr3:g.122284195_122284196delinsT (hg38)
PubMed:
PMID:8675635
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.122284195_122284196delinsT , CM000665.2:g.122284195_122284196delinsT | GRCh38 |
| NC_000003.11:g.122003042_122003043delinsT , CM000665.1:g.122003042_122003043delinsT | GRCh37 |
| NC_000003.10:g.123485732_123485733delinsT | NCBI36 |
| NG_009058.1:g.105513_105514delinsT | |
| NG_009058.2:g.105528_105529delinsT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000490131.7:c.2010_2011delinsT | ENSP00000418685.2:p.Pro671ArgfsTer29 | |
| ENST00000498619.4:c.2271_2272delinsT | ENSP00000420194.1:p.Pro758ArgfsTer29 | |
| ENST00000638421.1:c.2241_2242delinsT | ENSP00000492190.1:p.Pro748ArgfsTer29 | |
| ENST00000639785.2:c.2241_2242delinsT MANE Select | ENSP00000491584.2:p.Pro748ArgfsTer29 | |
| ENST00000490131.5:c.2241_2242delinsT | ENSP00000418685.1:p.Pro748ArgfsTer29 | |
| ENST00000498619.2:c.2271_2272delinsT | ENSP00000420194.1:p.Pro758ArgfsTer29 | |
| NM_000388.3:c.2241_2242delinsT | NP_000379.2:p.Ser749GlnfsTer28 | |
| NM_001178065.1:c.2271_2272delinsT | NP_001171536.1:p.Ser759GlnfsTer28 | |
| XM_005247836.2:c.2241_2242delinsT | XP_005247893.1:p.Pro748ArgfsTer29 | |
| XM_005247837.2:c.1758_1759delinsT | XP_005247894.1:p.Pro587ArgfsTer29 | |
| XM_006713789.2:c.2241_2242delinsT | XP_006713852.1:p.Pro748ArgfsTer29 | |
| XM_011513237.1:c.2241_2242delinsT | XP_011511539.1:p.Pro748ArgfsTer29 | |
| XM_011513238.1:c.2241_2242delinsT | XP_011511540.1:p.Pro748ArgfsTer29 | |
| XM_011513239.1:c.1653_1654delinsT | XP_011511541.1:p.Pro552ArgfsTer29 | |
| XM_006713789.3:c.2241_2242delinsT | XP_006713852.1:p.Pro748ArgfsTer29 | |
| XM_017007324.1:c.2241_2242delinsT | XP_016862813.1:p.Pro748ArgfsTer29 | |
| XM_017007325.1:c.2241_2242delinsT | XP_016862814.1:p.Pro748ArgfsTer29 | |
| NM_000388.4:c.2241_2242delinsT MANE Select | NP_000379.3:p.Pro748ArgfsTer29 | |
| NM_001178065.2:c.2271_2272delinsT | NP_001171536.2:p.Pro758ArgfsTer29 |