Linked Data
dbSNP Id:
rs11431894
gnomAD v2:
1-100680593-C-CTTT
gnomAD v3:
1-100215037-C-CTTT
gnomAD v4:
1-100215037-C-CTTT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.100215049_100215051dup , CM000663.2:g.100215049_100215051dup | GRCh38 |
| NC_000001.10:g.100680605_100680607dup , CM000663.1:g.100680605_100680607dup | GRCh37 |
| NC_000001.9:g.100453193_100453195dup | NCBI36 |
| NG_011852.2:g.39814_39816dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000681617.1:c.773-57_773-55dup | ENSP00000505544.1:n.773-57_773-55dup | |
| ENST00000681780.1:c.230-57_230-55dup | ENSP00000505780.1:n.230-57_230-55dup | |
| ENST00000370131.3:c.773-57_773-55dup | ENSP00000359150.3:n.773-57_773-55dup | |
| ENST00000370132.8:c.773-57_773-55dup MANE Select | ENSP00000359151.3:n.773-57_773-55dup | |
| NM_001918.3:c.773-57_773-55dup | NP_001909.3:n.773-57_773-55dup | |
| XM_005270545.2:c.230-57_230-55dup | XP_005270602.1:n.230-57_230-55dup | |
| XM_005270546.2:c.230-57_230-55dup | XP_005270603.1:n.230-57_230-55dup | |
| XR_946560.1:n.793-57_793-55dup | ||
| XM_005270545.4:c.230-57_230-55dup | XP_005270602.1:n.230-57_230-55dup | |
| XM_017000468.2:c.230-57_230-55dup | XP_016855957.1:n.230-57_230-55dup | |
| XM_017000469.2:c.230-57_230-55dup | XP_016855958.1:n.230-57_230-55dup | |
| XR_946560.3:n.790-57_790-55dup | ||
| NM_001918.4:c.773-57_773-55dup | NP_001909.3:n.773-57_773-55dup | |
| NM_001918.5:c.773-57_773-55dup MANE Select | NP_001909.4:n.773-57_773-55dup | |
| NM_001399969.1:c.230-57_230-55dup | NP_001386898.1:n.230-57_230-55dup | |
| NM_001399972.1:c.230-57_230-55dup | NP_001386901.1:n.230-57_230-55dup | |
| NR_174363.1:n.605-57_605-55dup | ||
| NR_174364.1:n.787-57_787-55dup | ||
| NR_174365.1:n.570-57_570-55dup | ||
| NR_174366.1:n.787-57_787-55dup |