Linked Data
ClinVar Variation Id:
338
ClinVar RCV Id:
RCV000000366
dbSNP Id:
rs267606597
PubMed:
PMID:1302608
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.31327758_31327759insT , CM000679.2:g.31327758_31327759insT | GRCh38 |
| NC_000017.10:g.29654776_29654777insT , CM000679.1:g.29654776_29654777insT | GRCh37 |
| NC_000017.9:g.26678902_26678903insT | NCBI36 |
| NG_009018.1:g.237782_237783insT , LRG_214:g.237782_237783insT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000581113.7:c.1716_1717insT | ENSP00000492721.2:n.1716_1717insT | |
| ENST00000696138.1:c.5510_5511insT | ENSP00000512431.1:p.Lys1838GlnfsTer18 | |
| ENST00000684826.1:c.92_93insT | ENSP00000509994.1:p.Lys32GlnfsTer18 | |
| ENST00000687027.1:c.-236+1506_-236+1507insT | ENSP00000508715.1:n.-236+1506_-236+1507in... | |
| ENST00000687863.1:n.2173_2174insT | ||
| ENST00000691014.1:c.5558_5559insT | ENSP00000510595.1:p.Lys1854GlnfsTer18 | |
| ENST00000693617.1:c.92_93insT | ENSP00000510031.1:p.Lys32GlnfsTer18 | |
| ENST00000358273.9:c.5528_5529insT MANE Select | ENSP00000351015.4:p.Lys1844GlnfsTer18 | |
| ENST00000356175.7:c.5465_5466insT | ENSP00000348498.3:p.Lys1823GlnfsTer18 | |
| ENST00000358273.8:c.5528_5529insT | ENSP00000351015.4:p.Lys1844GlnfsTer18 | |
| ENST00000456735.6:c.4463_4464insT | ENSP00000389907.2:p.Lys1489GlnfsTer18 | |
| ENST00000493220.5:n.4001_4002insT | ||
| ENST00000579081.5:c.5664_5665insT | ENSP00000462408.1:n.5664_5665insT | |
| ENST00000581113.6:n.845_846insT | ||
| NM_000267.3:c.5465_5466insT , LRG_214t1:c.5465_5466insT | NP_000258.1:p.Lys1823GlnfsTer18 | |
| NM_001042492.2:c.5528_5529insT , LRG_214t2:c.5528_5529insT | NP_001035957.1:p.Lys1844GlnfsTer18 | |
| XM_005257983.1:c.5528_5529insT | XP_005258040.1:p.Lys1844GlnfsTer18 | |
| XM_005257984.1:c.5465_5466insT | XP_005258041.1:p.Lys1823GlnfsTer18 | |
| XM_006721922.1:c.5558_5559insT | XP_006721985.1:p.Lys1854GlnfsTer18 | |
| XM_006721923.2:c.5519_5520insT | XP_006721986.1:p.Lys1841GlnfsTer18 | |
| XM_006721924.1:c.5558_5559insT | XP_006721987.1:p.Lys1854GlnfsTer18 | |
| XM_006721925.1:c.5495_5496insT | XP_006721988.1:p.Lys1833GlnfsTer18 | |
| XM_006721926.2:c.5558_5559insT | XP_006721989.1:p.Lys1854GlnfsTer18 | |
| XM_006721927.1:c.5558_5559insT | XP_006721990.1:p.Lys1854GlnfsTer18 | |
| XM_011524852.1:c.5555_5556insT | XP_011523154.1:p.Lys1853GlnfsTer18 | |
| XM_011524853.1:c.5519_5520insT | XP_011523155.1:p.Lys1841GlnfsTer18 | |
| XM_011524854.1:c.5519_5520insT | XP_011523156.1:p.Lys1841GlnfsTer18 | |
| XM_011524855.1:c.5519_5520insT | XP_011523157.1:p.Lys1841GlnfsTer18 | |
| XM_011524856.1:c.5519_5520insT | XP_011523158.1:p.Lys1841GlnfsTer18 | |
| XM_011524857.1:c.5558_5559insT | XP_011523159.1:p.Lys1854GlnfsTer18 | |
| NM_001042492.3:c.5528_5529insT MANE Select | NP_001035957.1:p.Lys1844GlnfsTer18 |