Linked Data
dbSNP Id:
rs11466313
gnomAD v3:
19-41355432-C-CCCTCCTCATGTCCCTGCCCTCCCT
gnomAD v4:
19-41355432-C-CCCTCCTCATGTCCCTGCCCTCCCT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41355436_41355437insCTCATGTCCCTGCCCTCCCTCCTC , CM000681.2:g.41355436_41355437insCTCATGTCCCTGCCCTCCCTCCTC | GRCh38 |
| NC_000019.9:g.41861341_41861342insCTCATGTCCCTGCCCTCCCTCCTC , CM000681.1:g.41861341_41861342insCTCATGTCCCTGCCCTCCCTCCTC | GRCh37 |
| NC_000019.8:g.46553181_46553182insCTCATGTCCCTGCCCTCCCTCCTC | NCBI36 |
| NG_013091.1:g.13741_13742insAGGGAGGGCAGGGACATGAGGAGG | |
| NG_013364.1:g.3494_3495insAGGGAGGGCAGGGACATGAGGAGG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000243578.8:c.215-420_215-419insAGGGAGGGCAGGGACATGAGGAGG (B9D2) MANE Select | ENSP00000243578.2:n.215-420_215-419insAGGGAGGGCAGGGACATGAGGAG... | |
| ENST00000675972.1:c.215-420_215-419insAGGGAGGGCAGGGACATGAGGAGG (B9D2) | ENSP00000501911.1:n.215-420_215-419insAGGGAGGGCAGGGACATGAGGAG... | |
| ENST00000243578.7:c.215-420_215-419insAGGGAGGGCAGGGACATGAGGAGG (B9D2) | ENSP00000243578.2:n.215-420_215-419insAGGGAGGGCAGGGACATGAGGAG... | |
| ENST00000539627.5:c.-30+4234_-30+4235insCTCATGTCCCTGCCCTCCCTCCTC (TMEM91) | ENSP00000441900.1:n.-30+4234_-30+4235insCTCATGTCCCTGCCCTCCCTC... | |
| ENST00000594416.1:c.*61-420_*61-419insAGGGAGGGCAGGGACATGAGGAGG (B9D2) | ENSP00000469666.1:n.*61-420_*61-419insAGGGAGGGCAGGGACATGAGGAG... | |
| ENST00000604123.5:c.142+1121_142+1122insCTCATGTCCCTGCCCTCCCTCCTC (TMEM91) | ENSP00000474871.1:n.142+1121_142+1122insCTCATGTCCCTGCCCTCCCTC... | |
| ENST00000604424.1:n.350+4234_350+4235insCTCATGTCCCTGCCCTCCCTCCTC | ||
| NM_030578.3:c.215-420_215-419insAGGGAGGGCAGGGACATGAGGAGG (B9D2) | NP_085055.2:n.215-420_215-419insAGGGAGGGCAGGGACATGAGGAGG | |
| XM_006723405.1:c.89-420_89-419insAGGGAGGGCAGGGACATGAGGAGG (B9D2) | XP_006723468.1:n.89-420_89-419insAGGGAGGGCAGGGACATGAGGAGG | |
| XM_011527349.1:c.215-420_215-419insAGGGAGGGCAGGGACATGAGGAGG (B9D2) | XP_011525651.1:n.215-420_215-419insAGGGAGGGCAGGGACATGAGGAGG | |
| XM_011527350.1:c.56-420_56-419insAGGGAGGGCAGGGACATGAGGAGG (B9D2) | XP_011525652.1:n.56-420_56-419insAGGGAGGGCAGGGACATGAGGAGG | |
| XM_011527349.2:c.215-420_215-419insAGGGAGGGCAGGGACATGAGGAGG (B9D2) | XP_011525651.1:n.215-420_215-419insAGGGAGGGCAGGGACATGAGGAGG | |
| XM_011527350.2:c.56-420_56-419insAGGGAGGGCAGGGACATGAGGAGG (B9D2) | XP_011525652.1:n.56-420_56-419insAGGGAGGGCAGGGACATGAGGAGG | |
| NM_030578.4:c.215-420_215-419insAGGGAGGGCAGGGACATGAGGAGG (B9D2) MANE Select | NP_085055.2:n.215-420_215-419insAGGGAGGGCAGGGACATGAGGAGG |