Linked Data
ClinVar Variation Id:
189334
ClinVar RCV Id:
RCV000169750
dbSNP Id:
rs786205140
PubMed:
PMID:25683118
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.96737879dup , CM000667.2:g.96737879dup | GRCh38 |
| NC_000005.9:g.96073583dup , CM000667.1:g.96073583dup | GRCh37 |
| NC_000005.8:g.96099339dup | NCBI36 |
| NG_029490.1:g.80843dup | |
| NG_029490.2:g.80843dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000508608.6:c.619dup | ENSP00000422677.2:p.Ile207AsnfsTer8 | |
| ENST00000510756.6:c.358dup | ENSP00000422176.2:p.Ile120AsnfsTer8 | |
| ENST00000674587.1:c.358dup | ENSP00000501797.1:p.Ile120AsnfsTer8 | |
| ENST00000674702.1:c.472dup | ENSP00000502345.1:p.Ile158AsnfsTer8 | |
| ENST00000674984.1:c.664dup | ENSP00000501713.1:p.Ile222AsnfsTer8 | |
| ENST00000675033.1:c.358dup | ENSP00000501659.1:p.Ile120AsnfsTer8 | |
| ENST00000675107.1:n.700dup | ||
| ENST00000675179.1:c.730dup MANE Select | ENSP00000501872.1:p.Ile244AsnfsTer8 | |
| ENST00000675266.1:c.632dup | ||
| ENST00000675267.1:c.*354dup | ENSP00000502095.1:n.*354dup | |
| ENST00000675479.1:c.382dup | ENSP00000502244.1:p.Ile128AsnfsTer8 | |
| ENST00000675614.1:c.439dup | ENSP00000502136.1:p.Ile147AsnfsTer8 | |
| ENST00000675663.1:c.619dup | ENSP00000502449.1:p.Ile207AsnfsTer8 | |
| ENST00000675858.1:c.358dup | ENSP00000501780.1:p.Ile120AsnfsTer8 | |
| ENST00000309190.9:c.415dup | ENSP00000312523.5:p.Ile139AsnfsTer8 | |
| ENST00000338252.7:c.481dup | ENSP00000343421.3:p.Ile161AsnfsTer8 | |
| ENST00000341926.7:c.481dup | ENSP00000339914.3:p.Ile161AsnfsTer8 | |
| ENST00000348386.7:n.462dup | ||
| ENST00000395812.6:c.607dup | ENSP00000379157.2:p.Ile203AsnfsTer8 | |
| ENST00000395813.5:c.481dup | ENSP00000379158.2:p.Ile161AsnfsTer8 | |
| ENST00000421689.6:c.673dup | ENSP00000396558.2:p.Ile225AsnfsTer8 | |
| ENST00000504465.5:c.265dup | ENSP00000425670.1:p.Ile89AsnfsTer8 | |
| ENST00000505143.5:c.715dup | ENSP00000422957.1:p.Ile239AsnfsTer8 | |
| ENST00000508197.1:c.334dup | ENSP00000422831.1:p.Ile112AsnfsTer8 | |
| ENST00000508608.5:c.619dup | ENSP00000422677.1:p.Ile207AsnfsTer8 | |
| ENST00000508830.5:c.730dup | ENSP00000425721.1:p.Ile244AsnfsTer8 | |
| ENST00000509903.5:c.415dup | ENSP00000426946.1:p.Ile139AsnfsTer8 | |
| ENST00000510156.5:c.481dup | ENSP00000422325.1:p.Ile161AsnfsTer8 | |
| ENST00000510756.5:c.664dup | ENSP00000422176.1:p.Ile222AsnfsTer8 | |
| ENST00000511049.5:c.439dup | ENSP00000421130.1:p.Ile147AsnfsTer8 | |
| ENST00000511097.6:c.664dup | ENSP00000422951.2:p.Ile222AsnfsTer8 | |
| ENST00000511782.5:c.439dup | ENSP00000423638.1:p.Ile147AsnfsTer8 | |
| ENST00000512620.5:c.531dup | ||
| ENST00000513666.5:n.104dup | ||
| ENST00000515063.1:n.96dup | ||
| NM_001042440.3:c.607dup | NP_001035905.1:p.Ile203AsnfsTer8 | |
| NM_001190442.1:c.481dup | NP_001177371.1:p.Ile161AsnfsTer8 | |
| NM_001284212.1:c.358dup | NP_001271141.1:p.Ile120AsnfsTer8 | |
| NM_001284213.1:c.265dup | NP_001271142.1:p.Ile89AsnfsTer8 | |
| NM_173060.3:c.415dup | NP_775083.1:p.Ile139AsnfsTer8 | |
| XM_006714696.2:c.730dup | XP_006714759.1:p.Ile244AsnfsTer8 | |
| XM_006714697.2:c.730dup | XP_006714760.1:p.Ile244AsnfsTer8 | |
| XM_006714698.2:c.730dup | XP_006714761.1:p.Ile244AsnfsTer8 | |
| XM_006714699.2:c.685dup | XP_006714762.1:p.Ile229AsnfsTer8 | |
| XM_006714700.2:c.673dup | XP_006714763.1:p.Ile225AsnfsTer8 | |
| XM_006714701.2:c.664dup | XP_006714764.1:p.Ile222AsnfsTer8 | |
| XM_006714702.2:c.628dup | XP_006714765.1:p.Ile210AsnfsTer8 | |
| XM_006714703.2:c.664dup | XP_006714766.1:p.Ile222AsnfsTer8 | |
| XM_006714704.2:c.619dup | XP_006714767.1:p.Ile207AsnfsTer8 | |
| XM_006714705.2:c.607dup | XP_006714768.1:p.Ile203AsnfsTer8 | |
| XM_006714706.2:c.562dup | XP_006714769.1:p.Ile188AsnfsTer8 | |
| XM_006714707.2:c.481dup | XP_006714770.1:p.Ile161AsnfsTer8 | |
| XM_006714708.2:c.481dup | XP_006714771.1:p.Ile161AsnfsTer8 | |
| XM_006714709.2:c.424dup | XP_006714772.1:p.Ile142AsnfsTer8 | |
| XM_006714710.2:c.415dup | XP_006714773.1:p.Ile139AsnfsTer8 | |
| XM_006714711.2:c.358dup | XP_006714774.1:p.Ile120AsnfsTer8 | |
| XM_006714712.2:c.358dup | XP_006714775.1:p.Ile120AsnfsTer8 | |
| XM_011543654.1:c.649dup | XP_011541956.1:p.Ile217AsnfsTer8 | |
| XM_011543655.1:c.730dup | XP_011541957.1:p.Ile244AsnfsTer8 | |
| XM_011543656.1:c.583dup | XP_011541958.1:p.Ile195AsnfsTer8 | |
| XM_011543657.1:c.538dup | XP_011541959.1:p.Ile180AsnfsTer8 | |
| XM_011543658.1:c.334dup | XP_011541960.1:p.Ile112AsnfsTer8 | |
| XM_011543659.1:c.730dup | XP_011541961.1:p.Ile244AsnfsTer8 | |
| NM_001042440.4:c.607dup | NP_001035905.1:p.Ile203AsnfsTer8 | |
| NM_001042441.2:c.673dup | NP_001035906.1:p.Ile225AsnfsTer8 | |
| NM_001042442.2:c.664dup | NP_001035907.1:p.Ile222AsnfsTer8 | |
| NM_001042443.2:c.481dup | NP_001035908.1:p.Ile161AsnfsTer8 | |
| NM_001042444.2:c.358dup | NP_001035909.1:p.Ile120AsnfsTer8 | |
| NM_001042445.2:c.415dup | NP_001035910.1:p.Ile139AsnfsTer8 | |
| NM_001042446.2:c.358dup | NP_001035911.1:p.Ile120AsnfsTer8 | |
| NM_001284212.3:c.358dup | NP_001271141.1:p.Ile120AsnfsTer8 | |
| NM_001284213.3:c.265dup | NP_001271142.1:p.Ile89AsnfsTer8 | |
| NM_001330626.1:c.673dup | NP_001317555.1:p.Ile225AsnfsTer8 | |
| NM_001330627.1:c.607dup | NP_001317556.1:p.Ile203AsnfsTer8 | |
| NM_001330628.1:c.562dup | NP_001317557.1:p.Ile188AsnfsTer8 | |
| NM_001330629.1:c.685dup | NP_001317558.1:p.Ile229AsnfsTer8 | |
| NM_001330630.1:c.358dup | NP_001317559.1:p.Ile120AsnfsTer8 | |
| NM_001330631.1:c.481dup | NP_001317560.1:p.Ile161AsnfsTer8 | |
| NM_001330632.1:c.415dup | NP_001317561.1:p.Ile139AsnfsTer8 | |
| NM_001330633.1:c.424dup | NP_001317562.1:p.Ile142AsnfsTer8 | |
| NM_001330634.1:c.424dup | NP_001317563.1:p.Ile142AsnfsTer8 | |
| NM_001750.6:c.730dup | NP_001741.4:p.Ile244AsnfsTer8 | |
| NM_173060.4:c.415dup | NP_775083.1:p.Ile139AsnfsTer8 | |
| NM_001042440.5:c.607dup | NP_001035905.1:p.Ile203AsnfsTer8 | |
| NM_001042441.3:c.673dup | NP_001035906.1:p.Ile225AsnfsTer8 | |
| NM_001042442.3:c.664dup | NP_001035907.1:p.Ile222AsnfsTer8 | |
| NM_001330626.2:c.673dup | NP_001317555.1:p.Ile225AsnfsTer8 | |
| NM_001330627.2:c.607dup | NP_001317556.1:p.Ile203AsnfsTer8 | |
| NM_001330628.2:c.562dup | NP_001317557.1:p.Ile188AsnfsTer8 | |
| NM_001330629.2:c.685dup | NP_001317558.1:p.Ile229AsnfsTer8 | |
| NM_001375317.1:c.619dup | NP_001362246.1:p.Ile207AsnfsTer8 | |
| NM_001750.7:c.730dup MANE Select | NP_001741.4:p.Ile244AsnfsTer8 | |
| NM_001042443.3:c.481dup | NP_001035908.1:p.Ile161AsnfsTer8 | |
| NM_001042444.3:c.358dup | NP_001035909.1:p.Ile120AsnfsTer8 | |
| NM_001042445.3:c.415dup | NP_001035910.1:p.Ile139AsnfsTer8 | |
| NM_001042446.3:c.358dup | NP_001035911.1:p.Ile120AsnfsTer8 | |
| NM_001190442.2:c.481dup | NP_001177371.1:p.Ile161AsnfsTer8 | |
| NM_001284212.4:c.358dup | NP_001271141.1:p.Ile120AsnfsTer8 | |
| NM_001284213.4:c.265dup | NP_001271142.1:p.Ile89AsnfsTer8 | |
| NM_001330630.2:c.358dup | NP_001317559.1:p.Ile120AsnfsTer8 | |
| NM_001330631.2:c.481dup | NP_001317560.1:p.Ile161AsnfsTer8 | |
| NM_001330632.2:c.415dup | NP_001317561.1:p.Ile139AsnfsTer8 | |
| NM_001330633.2:c.424dup | NP_001317562.1:p.Ile142AsnfsTer8 | |
| NM_001330634.2:c.424dup | NP_001317563.1:p.Ile142AsnfsTer8 | |
| NM_173060.5:c.415dup | NP_775083.1:p.Ile139AsnfsTer8 |