Linked Data
ClinVar Variation Id:
2680370
ClinVar RCV Id:
RCV003460307
gnomAD v4:
15-42409971-C-CCGTA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.42409972_42409975dup , CM000677.2:g.42409972_42409975dup | GRCh38 |
| NC_000015.9:g.42702170_42702173dup , CM000677.1:g.42702170_42702173dup | GRCh37 |
| NC_000015.8:g.40489462_40489465dup | NCBI36 |
| NG_008660.1:g.66870_66873dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000337571.9:c.97_100dup | ENSP00000336840.4:p.Ser34ThrfsTer2 | |
| ENST00000349748.8:c.1816_1819dup | ENSP00000183936.4:p.Ser607ThrfsTer2 | |
| ENST00000357568.8:c.2074_2077dup | ENSP00000350181.3:p.Ser693ThrfsTer2 | |
| ENST00000397163.8:c.2092_2095dup MANE Select | ENSP00000380349.3:p.Ser699ThrfsTer2 | |
| ENST00000397204.9:c.97_100dup | ENSP00000380387.4:p.Ser34ThrfsTer2 | |
| ENST00000466222.7:n.357_360dup | ||
| ENST00000466369.5:n.2583_2586dup | ||
| ENST00000495723.1:n.2963_2966dup | ||
| ENST00000549793.5:n.2305_2308dup | ||
| ENST00000562199.2:c.100_103dup | ENSP00000501034.1:p.Ser35ThrfsTer2 | |
| ENST00000569136.6:c.97_100dup | ENSP00000455254.1:p.Ser34ThrfsTer2 | |
| ENST00000638141.2:n.1831_1834dup | ||
| ENST00000673646.1:c.656_659dup | ENSP00000501007.1:n.656_659dup | |
| ENST00000673687.1:n.169_172dup | ||
| ENST00000673692.1:c.97_100dup | ENSP00000501138.1:p.Ser34ThrfsTer2 | |
| ENST00000673705.1:c.487_490dup | ENSP00000501021.1:n.487_490dup | |
| ENST00000673743.1:c.-6_-3dup | ENSP00000500989.1:n.-6_-3dup | |
| ENST00000673750.1:c.97_100dup | ENSP00000501173.1:p.Ser34ThrfsTer2 | |
| ENST00000673771.1:c.97_100dup | ENSP00000501023.1:p.Ser34ThrfsTer2 | |
| ENST00000673774.1:n.793_796dup | ||
| ENST00000673839.1:c.97_100dup | ENSP00000501188.1:p.Ser34ThrfsTer2 | |
| ENST00000673851.1:c.97_100dup | ENSP00000501142.1:p.Ser34ThrfsTer2 | |
| ENST00000673854.1:n.5514_5517dup | ||
| ENST00000673886.1:c.97_100dup | ENSP00000501155.1:p.Ser34ThrfsTer2 | |
| ENST00000673890.1:c.97_100dup | ENSP00000501293.1:p.Ser34ThrfsTer2 | |
| ENST00000673893.1:c.16_19dup | ENSP00000500987.1:p.Ser7ThrfsTer2 | |
| ENST00000673928.1:c.97_100dup | ENSP00000501099.1:p.Ser34ThrfsTer2 | |
| ENST00000673936.1:c.97_100dup | ENSP00000501189.1:p.Ser34ThrfsTer2 | |
| ENST00000673939.1:c.97_100dup | ENSP00000501129.1:p.Ser34ThrfsTer2 | |
| ENST00000673950.1:n.366_369dup | ||
| ENST00000673978.1:c.235_238dup | ENSP00000500976.1:p.Ser80ThrfsTer2 | |
| ENST00000673987.1:c.97_100dup | ENSP00000501231.1:p.Ser34ThrfsTer2 | |
| ENST00000674011.1:c.97_100dup | ENSP00000501171.1:p.Ser34ThrfsTer2 | |
| ENST00000674018.1:c.97_100dup | ENSP00000501271.1:p.Ser34ThrfsTer2 | |
| ENST00000674027.1:n.152_155dup | ||
| ENST00000674041.1:c.97_100dup | ENSP00000500956.1:p.Ser34ThrfsTer2 | |
| ENST00000674052.1:c.316_319dup | ENSP00000501057.1:p.Ser107ThrfsTer2 | |
| ENST00000674093.1:c.97_100dup | ENSP00000501303.1:p.Ser34ThrfsTer2 | |
| ENST00000674119.1:c.97_100dup | ENSP00000501217.1:p.Ser34ThrfsTer2 | |
| ENST00000674130.1:n.310_313dup | ||
| ENST00000674135.1:c.274_277dup | ENSP00000501178.1:p.Ser93ThrfsTer2 | |
| ENST00000674139.1:c.97_100dup | ENSP00000501054.1:p.Ser34ThrfsTer2 | |
| ENST00000674146.1:c.97_100dup | ENSP00000501175.1:p.Ser34ThrfsTer2 | |
| ENST00000674149.1:c.97_100dup | ENSP00000501112.1:p.Ser34ThrfsTer2 | |
| ENST00000318023.11:c.1948_1951dup | ENSP00000326281.8:p.Ser651ThrfsTer2 | |
| ENST00000337571.8:c.97_100dup | ENSP00000336840.4:p.Ser34ThrfsTer2 | |
| ENST00000349748.7:c.1816_1819dup | ENSP00000183936.4:p.Ser607ThrfsTer2 | |
| ENST00000356316.7:c.97_100dup | ENSP00000348667.4:p.Ser34ThrfsTer2 | |
| ENST00000357568.7:c.2074_2077dup | ENSP00000350181.3:p.Ser693ThrfsTer2 | |
| ENST00000397163.7:c.2092_2095dup | ENSP00000380349.3:p.Ser699ThrfsTer2 | |
| ENST00000397200.8:c.556_559dup | ENSP00000380384.4:p.Ser187ThrfsTer2 | |
| ENST00000397204.8:c.97_100dup | ENSP00000380387.4:p.Ser34ThrfsTer2 | |
| ENST00000466222.6:n.1015_1018dup | ||
| ENST00000561817.5:c.97_100dup | ENSP00000456575.1:p.Ser34ThrfsTer2 | |
| ENST00000562199.1:n.100_103dup | ||
| ENST00000564503.5:c.189_192dup | ||
| ENST00000565274.5:c.304_307dup | ENSP00000457759.1:p.Ser103ThrfsTer2 | |
| ENST00000565559.5:c.274_277dup | ENSP00000457878.1:p.Ser93ThrfsTer2 | |
| ENST00000569136.5:c.97_100dup | ENSP00000455254.1:p.Ser34ThrfsTer2 | |
| ENST00000569827.5:c.424_427dup | ENSP00000454379.1:p.Ser143ThrfsTer2 | |
| NM_000070.2:c.2092_2095dup | NP_000061.1:p.Ser699ThrfsTer2 | |
| NM_024344.1:c.2074_2077dup | NP_077320.1:p.Ser693ThrfsTer2 | |
| NM_173087.1:c.1816_1819dup | NP_775110.1:p.Ser607ThrfsTer2 | |
| NM_173088.1:c.556_559dup | NP_775111.1:p.Ser187ThrfsTer2 | |
| NM_173089.1:c.97_100dup | NP_775112.1:p.Ser34ThrfsTer2 | |
| NM_173090.1:c.97_100dup | NP_775113.1:p.Ser34ThrfsTer2 | |
| NM_000070.3:c.2092_2095dup MANE Select | NP_000061.1:p.Ser699ThrfsTer2 | |
| NM_024344.2:c.2074_2077dup | NP_077320.1:p.Ser693ThrfsTer2 | |
| NM_173087.2:c.1816_1819dup | NP_775110.1:p.Ser607ThrfsTer2 | |
| NM_173088.2:c.556_559dup | NP_775111.1:p.Ser187ThrfsTer2 | |
| NM_173089.2:c.97_100dup | NP_775112.1:p.Ser34ThrfsTer2 | |
| NM_173090.2:c.97_100dup | NP_775113.1:p.Ser34ThrfsTer2 |