SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-09-25T08:00:00-0500
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
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 |