Linked Data
dbSNP Id:
rs1263691293
gnomAD v2:
2-167060901-T-TTTTG
MyVariant Identifiers:
chr2:g.167060901_167060902insTTTG (hg19)
chr2:g.166204391_166204392insTTTG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.166204392_166204393insTTGT , CM000664.2:g.166204392_166204393insTTGT | GRCh38 |
| NC_000002.11:g.167060902_167060903insTTGT , CM000664.1:g.167060902_167060903insTTGT | GRCh37 |
| NC_000002.10:g.166769148_166769149insTTGT | NCBI36 |
| NG_012798.1:g.176596_176597insCAAA , LRG_369:g.176596_176597insCAAA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303354.11:c.4471_4472insCAAA (SCN9A) | ENSP00000304748.7:p.Lys1491ThrfsTer21 | |
| ENST00000409435.6:c.4471_4472insCAAA (SCN9A) | ENSP00000386330.2:p.Lys1491ThrfsTer21 | |
| ENST00000642356.2:c.4471_4472insCAAA (SCN9A) MANE Select | ENSP00000495601.1:p.Lys1491ThrfsTer21 | |
| ENST00000644316.1:c.4315_4316insCAAA (SCN9A) | ENSP00000493939.1:p.Lys1439ThrfsTer21 | |
| ENST00000645907.1:c.4438_4439insCAAA (SCN9A) | ENSP00000495983.1:p.Lys1480ThrfsTer21 | |
| ENST00000646694.1:n.848_849insCAAA (SCN9A) | ||
| ENST00000303354.10:c.4471_4472insCAAA (SCN9A) | ENSP00000304748.7:p.Lys1491ThrfsTer21 | |
| ENST00000409435.5:c.4471_4472insCAAA (SCN9A) | ENSP00000386330.1:p.Lys1491ThrfsTer21 | |
| ENST00000409672.5:c.4438_4439insCAAA (SCN9A) | ENSP00000386306.1:p.Lys1480ThrfsTer21 | |
| NM_002977.3:c.4438_4439insCAAA , LRG_369t1:c.4438_4439insCAAA (SCN9A) | NP_002968.1:p.Lys1480ThrfsTer21 | |
| NR_110260.1:n.611+4574_611+4575insTTGT (SCN1A-AS1) | ||
| XM_005246757.1:c.4471_4472insCAAA (SCN9A) | XP_005246814.1:p.Lys1491ThrfsTer21 | |
| XM_011511616.1:c.4471_4472insCAAA (SCN9A) | XP_011509918.1:p.Lys1491ThrfsTer21 | |
| XM_011511617.1:c.4471_4472insCAAA (SCN9A) | XP_011509919.1:p.Lys1491ThrfsTer21 | |
| XM_011511618.1:c.4438_4439insCAAA (SCN9A) | XP_011509920.1:p.Lys1480ThrfsTer21 | |
| XM_011511619.1:c.4471_4472insCAAA (SCN9A) | XP_011509921.1:p.Lys1491ThrfsTer? | |
| NM_001365536.1:c.4471_4472insCAAA (SCN9A) MANE Select | NP_001352465.1:p.Lys1491ThrfsTer21 | |
| XM_011511616.3:c.4471_4472insCAAA (SCN9A) | XP_011509918.1:p.Lys1491ThrfsTer21 | |
| XM_011511617.2:c.4471_4472insCAAA (SCN9A) | XP_011509919.1:p.Lys1491ThrfsTer21 | |
| XM_011511618.2:c.4438_4439insCAAA (SCN9A) | XP_011509920.1:p.Lys1480ThrfsTer21 | |
| XM_011511619.2:c.4471_4472insCAAA (SCN9A) | XP_011509921.1:p.Lys1491ThrfsTer? | |
| XM_017004668.1:c.4084_4085insCAAA (SCN9A) | XP_016860157.1:p.Lys1362ThrfsTer21 | |
| XM_017004669.1:c.3727_3728insCAAA (SCN9A) | XP_016860158.1:p.Lys1243ThrfsTer21 |