Linked Data
ClinVar Variation Id:
2741596
ClinVar RCV Id:
RCV003523586
dbSNP Id:
rs1553228660
ExAC:
1:100661986 T / TG
gnomAD v4:
1-100196430-T-TG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.100196431dup , CM000663.2:g.100196431dup | GRCh38 |
| NC_000001.10:g.100661987dup , CM000663.1:g.100661987dup | GRCh37 |
| NC_000001.9:g.100434575dup | NCBI36 |
| NG_011852.2:g.58423dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000681617.1:c.1408-9dup | ENSP00000505544.1:n.1408-9dup | |
| ENST00000681780.1:c.739-9dup | ENSP00000505780.1:n.739-9dup | |
| ENST00000370132.8:c.1282-9dup MANE Select | ENSP00000359151.3:n.1282-9dup | |
| NM_001918.3:c.1282-9dup | NP_001909.3:n.1282-9dup | |
| XM_005270545.2:c.739-9dup | XP_005270602.1:n.739-9dup | |
| XM_005270546.2:c.739-9dup | XP_005270603.1:n.739-9dup | |
| XM_005270545.4:c.739-9dup | XP_005270602.1:n.739-9dup | |
| XM_017000468.2:c.739-9dup | XP_016855957.1:n.739-9dup | |
| XM_017000469.2:c.739-9dup | XP_016855958.1:n.739-9dup | |
| NM_001918.4:c.1282-9dup | NP_001909.3:n.1282-9dup | |
| NM_001918.5:c.1282-9dup MANE Select | NP_001909.4:n.1282-9dup | |
| NM_001399969.1:c.739-9dup | NP_001386898.1:n.739-9dup | |
| NM_001399972.1:c.739-9dup | NP_001386901.1:n.739-9dup | |
| NR_174363.1:n.1114-9dup | ||
| NR_174364.1:n.1455-9dup | ||
| NR_174365.1:n.1079-9dup | ||
| NR_174366.1:n.1381-9dup |