Linked Data
ClinVar Variation Id:
167657
ClinVar RCV Id:
RCV000153913
RCV000360774
RCV000264835
RCV000359605
RCV000405665
RCV000713172
RCV001807103
RCV001513086
RCV001807104
dbSNP Id:
rs77944059
ExAC:
2:167060980 GAAAC / G
gnomAD v2:
2-167060980-GAAAC-G
gnomAD v3:
2-166204470-GAAAC-G
gnomAD v4:
2-166204470-GAAAC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.166204478_166204481del , CM000664.2:g.166204478_166204481del | GRCh38 |
| NC_000002.11:g.167060988_167060991del , CM000664.1:g.167060988_167060991del | GRCh37 |
| NC_000002.10:g.166769234_166769237del | NCBI36 |
| NG_012798.1:g.176514_176517del , LRG_369:g.176514_176517del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303354.11:c.4399-10_4399-7del (SCN9A) | ENSP00000304748.7:n.4399-10_4399-7del | |
| ENST00000409435.6:c.4399-10_4399-7del (SCN9A) | ENSP00000386330.2:n.4399-10_4399-7del | |
| ENST00000642356.2:c.4399-10_4399-7del (SCN9A) MANE Select | ENSP00000495601.1:n.4399-10_4399-7del | |
| ENST00000644316.1:c.4243-10_4243-7del (SCN9A) | ENSP00000493939.1:n.4243-10_4243-7del | |
| ENST00000645907.1:c.4366-10_4366-7del (SCN9A) | ENSP00000495983.1:n.4366-10_4366-7del | |
| ENST00000646694.1:n.766_769del (SCN9A) | ||
| ENST00000303354.10:c.4399-10_4399-7del (SCN9A) | ENSP00000304748.7:n.4399-10_4399-7del | |
| ENST00000409435.5:c.4399-10_4399-7del (SCN9A) | ENSP00000386330.1:n.4399-10_4399-7del | |
| ENST00000409672.5:c.4366-10_4366-7del (SCN9A) | ENSP00000386306.1:n.4366-10_4366-7del | |
| NM_002977.3:c.4366-10_4366-7del , LRG_369t1:c.4366-10_4366-7del (SCN9A) | NP_002968.1:n.4366-10_4366-7del | |
| NR_110260.1:n.611+4660_611+4663del (SCN1A-AS1) | ||
| XM_005246757.1:c.4399-10_4399-7del (SCN9A) | XP_005246814.1:n.4399-10_4399-7del | |
| XM_011511616.1:c.4399-10_4399-7del (SCN9A) | XP_011509918.1:n.4399-10_4399-7del | |
| XM_011511617.1:c.4399-10_4399-7del (SCN9A) | XP_011509919.1:n.4399-10_4399-7del | |
| XM_011511618.1:c.4366-10_4366-7del (SCN9A) | XP_011509920.1:n.4366-10_4366-7del | |
| XM_011511619.1:c.4399-10_4399-7del (SCN9A) | XP_011509921.1:n.4399-10_4399-7del | |
| NM_001365536.1:c.4399-10_4399-7del (SCN9A) MANE Select | NP_001352465.1:n.4399-10_4399-7del | |
| XM_011511616.3:c.4399-10_4399-7del (SCN9A) | XP_011509918.1:n.4399-10_4399-7del | |
| XM_011511617.2:c.4399-10_4399-7del (SCN9A) | XP_011509919.1:n.4399-10_4399-7del | |
| XM_011511618.2:c.4366-10_4366-7del (SCN9A) | XP_011509920.1:n.4366-10_4366-7del | |
| XM_011511619.2:c.4399-10_4399-7del (SCN9A) | XP_011509921.1:n.4399-10_4399-7del | |
| XM_017004668.1:c.4012-10_4012-7del (SCN9A) | XP_016860157.1:n.4012-10_4012-7del | |
| XM_017004669.1:c.3655-10_3655-7del (SCN9A) | XP_016860158.1:n.3655-10_3655-7del |