SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-10-16T08:00:00-0500
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.
This migration is underway but taking longer than originally estimated.
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.
This migration is underway but taking longer than originally estimated.
Linked Data
ClinVar Variation Id:
189674
ClinVar RCV Id:
RCV000170159
dbSNP Id:
rs786205023
MyVariant Identifiers:
chrX:g.153295868_153295871delinsCA (hg19)
chrX:g.154030417_154030420delinsCA (hg38)
PubMed:
PMID:23696494
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154030417_154030420delinsCA , CM000685.2:g.154030417_154030420delinsCA | GRCh38 |
| NC_000023.10:g.153295868_153295871delinsCA , CM000685.1:g.153295868_153295871delinsCA | GRCh37 |
| NC_000023.9:g.152949062_152949065delinsCA | NCBI36 |
| NG_007107.2:g.111708_111711delinsTG | |
| NG_007107.3:g.111684_111687delinsTG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303391.11:c.1408_1411delinsTG MANE Plus Clinical | ENSP00000301948.6:p.Asn470TrpfsTer16 | |
| ENST00000453960.7:c.1444_1447delinsTG MANE Select | ENSP00000395535.2:p.Asn482TrpfsTer16 | |
| ENST00000303391.10:c.1408_1411delinsTG | ENSP00000301948.6:p.Asn470TrpfsTer16 | |
| ENST00000453960.6:c.1444_1447delinsTG | ENSP00000395535.2:p.Asn482TrpfsTer16 | |
| ENST00000619732.4:c.1408_1411delinsTG | ENSP00000480973.1:p.Asn470TrpfsTer16 | |
| ENST00000628176.2:c.*780_*783delinsTG | ENSP00000486978.1:n.*780_*783delinsTG | |
| NM_001110792.1:c.1444_1447delinsTG | NP_001104262.1:p.Asn482TrpfsTer16 | |
| NM_001316337.1:c.1129_1132delinsTG | NP_001303266.1:p.Asn377TrpfsTer16 | |
| NM_004992.3:c.1408_1411delinsTG | NP_004983.1:p.Asn470TrpfsTer16 | |
| XM_005274681.3:c.1408_1411delinsTG | XP_005274738.1:p.Asn470TrpfsTer16 | |
| XM_005274682.3:c.1129_1132delinsTG | XP_005274739.1:p.Asn377TrpfsTer16 | |
| XM_005274683.3:c.1129_1132delinsTG | XP_005274740.1:p.Asn377TrpfsTer16 | |
| XM_006724819.2:c.739_742delinsTG | XP_006724882.1:p.Asn247TrpfsTer16 | |
| XM_011531166.1:c.1129_1132delinsTG | XP_011529468.1:p.Asn377TrpfsTer16 | |
| XM_006724819.3:c.739_742delinsTG | XP_006724882.1:p.Asn247TrpfsTer16 | |
| XM_011531166.2:c.1129_1132delinsTG | XP_011529468.1:p.Asn377TrpfsTer16 | |
| XM_024452383.1:c.1129_1132delinsTG | XP_024308151.1:p.Asn377TrpfsTer16 | |
| XM_024452384.1:c.1129_1132delinsTG | XP_024308152.1:p.Asn377TrpfsTer16 | |
| NM_001110792.2:c.1444_1447delinsTG MANE Select | NP_001104262.1:p.Asn482TrpfsTer16 | |
| NM_001316337.2:c.1129_1132delinsTG | NP_001303266.1:p.Asn377TrpfsTer16 | |
| NM_001369391.2:c.1129_1132delinsTG | NP_001356320.1:p.Asn377TrpfsTer16 | |
| NM_001369392.2:c.1129_1132delinsTG | NP_001356321.1:p.Asn377TrpfsTer16 | |
| NM_001369393.2:c.1129_1132delinsTG | NP_001356322.1:p.Asn377TrpfsTer16 | |
| NM_001369394.1:c.1129_1132delinsTG | NP_001356323.1:p.Asn377TrpfsTer16 | |
| NM_001369394.2:c.1129_1132delinsTG | NP_001356323.1:p.Asn377TrpfsTer16 | |
| NM_001386137.1:c.739_742delinsTG | NP_001373066.1:p.Asn247TrpfsTer16 | |
| NM_001386138.1:c.739_742delinsTG | NP_001373067.1:p.Asn247TrpfsTer16 | |
| NM_001386139.1:c.739_742delinsTG | NP_001373068.1:p.Asn247TrpfsTer16 | |
| NM_004992.4:c.1408_1411delinsTG MANE Plus Clinical | NP_004983.1:p.Asn470TrpfsTer16 |