Linked Data
dbSNP Id:
rs1855976597
gnomAD v3:
11-68803950-T-TTAATCCACAGA
gnomAD v4:
11-68803950-T-TTAATCCACAGA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68803952_68803962dup , CM000673.2:g.68803952_68803962dup | GRCh38 |
| NC_000011.9:g.68571420_68571430dup , CM000673.1:g.68571420_68571430dup | GRCh37 |
| NC_000011.8:g.68327996_68328006dup | NCBI36 |
| NG_011801.1:g.42971_42981dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265641.10:c.555+39_555+49dup MANE Select | ENSP00000265641.4:n.555+39_555+49dup | |
| ENST00000265641.9:c.555+39_555+49dup | ENSP00000265641.4:n.555+39_555+49dup | |
| ENST00000376618.6:c.555+39_555+49dup | ENSP00000365803.2:n.555+39_555+49dup | |
| ENST00000539743.5:c.555+39_555+49dup | ENSP00000446108.1:n.555+39_555+49dup | |
| ENST00000540367.5:c.555+39_555+49dup | ENSP00000439084.1:n.555+39_555+49dup | |
| NM_001031847.2:c.555+39_555+49dup | NP_001027017.1:n.555+39_555+49dup | |
| NM_001876.3:c.555+39_555+49dup | NP_001867.2:n.555+39_555+49dup | |
| XM_005273762.1:c.651+39_651+49dup | XP_005273819.1:n.651+39_651+49dup | |
| XM_005273763.1:c.651+39_651+49dup | XP_005273820.1:n.651+39_651+49dup | |
| XM_005273762.3:c.651+39_651+49dup | XP_005273819.1:n.651+39_651+49dup | |
| XM_017017220.1:c.555+39_555+49dup | XP_016872709.1:n.555+39_555+49dup | |
| NM_001876.4:c.555+39_555+49dup MANE Select | NP_001867.2:n.555+39_555+49dup | |
| NM_001031847.3:c.555+39_555+49dup | NP_001027017.1:n.555+39_555+49dup |