Linked Data
dbSNP Id:
rs1188996102
gnomAD v3:
2-166204348-A-ATATT
gnomAD v4:
2-166204348-A-ATATT
MyVariant Identifiers:
chr2:g.167060858_167060859insTATT (hg19)
chr2:g.166204348_166204349insTATT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.166204350_166204353dup , CM000664.2:g.166204350_166204353dup | GRCh38 |
| NC_000002.11:g.167060860_167060863dup , CM000664.1:g.167060860_167060863dup | GRCh37 |
| NC_000002.10:g.166769106_166769109dup | NCBI36 |
| NG_012798.1:g.176636_176639dup , LRG_369:g.176636_176639dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303354.11:c.4503+8_4503+11dup (SCN9A) | ENSP00000304748.7:n.4503+8_4503+11dup | |
| ENST00000409435.6:c.4503+8_4503+11dup (SCN9A) | ENSP00000386330.2:n.4503+8_4503+11dup | |
| ENST00000642356.2:c.4503+8_4503+11dup (SCN9A) MANE Select | ENSP00000495601.1:n.4503+8_4503+11dup | |
| ENST00000644316.1:c.4347+8_4347+11dup (SCN9A) | ENSP00000493939.1:n.4347+8_4347+11dup | |
| ENST00000645907.1:c.4470+8_4470+11dup (SCN9A) | ENSP00000495983.1:n.4470+8_4470+11dup | |
| ENST00000646694.1:n.880+8_880+11dup (SCN9A) | ||
| ENST00000303354.10:c.4503+8_4503+11dup (SCN9A) | ENSP00000304748.7:n.4503+8_4503+11dup | |
| ENST00000409435.5:c.4503+8_4503+11dup (SCN9A) | ENSP00000386330.1:n.4503+8_4503+11dup | |
| ENST00000409672.5:c.4470+8_4470+11dup (SCN9A) | ENSP00000386306.1:n.4470+8_4470+11dup | |
| NM_002977.3:c.4470+8_4470+11dup , LRG_369t1:c.4470+8_4470+11dup (SCN9A) | NP_002968.1:n.4470+8_4470+11dup | |
| NR_110260.1:n.611+4532_611+4535dup (SCN1A-AS1) | ||
| XM_005246757.1:c.4503+8_4503+11dup (SCN9A) | XP_005246814.1:n.4503+8_4503+11dup | |
| XM_011511616.1:c.4503+8_4503+11dup (SCN9A) | XP_011509918.1:n.4503+8_4503+11dup | |
| XM_011511617.1:c.4503+8_4503+11dup (SCN9A) | XP_011509919.1:n.4503+8_4503+11dup | |
| XM_011511618.1:c.4470+8_4470+11dup (SCN9A) | XP_011509920.1:n.4470+8_4470+11dup | |
| XM_011511619.1:c.4503+8_4503+11dup (SCN9A) | XP_011509921.1:n.4503+8_4503+11dup | |
| NM_001365536.1:c.4503+8_4503+11dup (SCN9A) MANE Select | NP_001352465.1:n.4503+8_4503+11dup | |
| XM_011511616.3:c.4503+8_4503+11dup (SCN9A) | XP_011509918.1:n.4503+8_4503+11dup | |
| XM_011511617.2:c.4503+8_4503+11dup (SCN9A) | XP_011509919.1:n.4503+8_4503+11dup | |
| XM_011511618.2:c.4470+8_4470+11dup (SCN9A) | XP_011509920.1:n.4470+8_4470+11dup | |
| XM_011511619.2:c.4503+8_4503+11dup (SCN9A) | XP_011509921.1:n.4503+8_4503+11dup | |
| XM_017004668.1:c.4116+8_4116+11dup (SCN9A) | XP_016860157.1:n.4116+8_4116+11dup | |
| XM_017004669.1:c.3759+8_3759+11dup (SCN9A) | XP_016860158.1:n.3759+8_3759+11dup |