Linked Data
ClinVar Variation Id:
1338247
ClinVar RCV Id:
RCV001822845
dbSNP Id:
rs760999682
gnomAD v2:
7-44185333-C-CGGGGCGGGAGGAGGT
gnomAD v3:
7-44145734-C-CGGGGCGGGAGGAGGT
gnomAD v4:
7-44145734-C-CGGGGCGGGAGGAGGT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.44145735_44145749dup , CM000669.2:g.44145735_44145749dup | GRCh38 |
| NC_000007.13:g.44185334_44185348dup , CM000669.1:g.44185334_44185348dup | GRCh37 |
| NC_000007.12:g.44151859_44151873dup | NCBI36 |
| NG_008847.1:g.48675_48689dup | |
| NG_008847.2:g.57422_57436dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395796.8:c.*1018-19_*1018-5dup | ENSP00000379142.4:n.*1018-19_*1018-5dup | |
| ENST00000616242.5:c.*140-19_*140-5dup | ENSP00000482149.2:n.*140-19_*140-5dup | |
| ENST00000683378.1:n.246-19_246-5dup | ||
| ENST00000336642.9:c.54-19_54-5dup | ENSP00000338009.5:n.54-19_54-5dup | |
| ENST00000345378.7:c.1023-19_1023-5dup | ENSP00000223366.2:n.1023-19_1023-5dup | |
| ENST00000403799.8:c.1020-19_1020-5dup MANE Select | ENSP00000384247.3:n.1020-19_1020-5dup | |
| ENST00000671824.1:c.1083-19_1083-5dup | ENSP00000500264.1:n.1083-19_1083-5dup | |
| ENST00000672743.1:n.32-19_32-5dup | ||
| ENST00000673284.1:c.1020-19_1020-5dup | ENSP00000499852.1:n.1020-19_1020-5dup | |
| ENST00000336642.8:c.72-19_72-5dup | ENSP00000338009.4:n.72-19_72-5dup | |
| ENST00000345378.6:c.1023-19_1023-5dup | ENSP00000223366.2:n.1023-19_1023-5dup | |
| ENST00000395796.7:c.1017-19_1017-5dup | ENSP00000379142.3:n.1017-19_1017-5dup | |
| ENST00000403799.7:c.1020-19_1020-5dup | ENSP00000384247.3:n.1020-19_1020-5dup | |
| ENST00000437084.1:c.969-19_969-5dup | ENSP00000402840.1:n.969-19_969-5dup | |
| ENST00000459642.1:n.381_395dup | ||
| ENST00000473353.1:n.318-19_318-5dup | ||
| ENST00000616242.4:c.1017-19_1017-5dup | ENSP00000482149.1:n.1017-19_1017-5dup | |
| NM_000162.3:c.1020-19_1020-5dup | NP_000153.1:n.1020-19_1020-5dup | |
| NM_033507.1:c.1023-19_1023-5dup | NP_277042.1:n.1023-19_1023-5dup | |
| NM_033508.1:c.1017-19_1017-5dup | NP_277043.1:n.1017-19_1017-5dup | |
| NM_000162.4:c.1020-19_1020-5dup | NP_000153.1:n.1020-19_1020-5dup | |
| NM_001354800.1:c.1020-19_1020-5dup | NP_001341729.1:n.1020-19_1020-5dup | |
| NM_001354801.1:c.9-19_9-5dup | NP_001341730.1:n.9-19_9-5dup | |
| NM_001354802.1:c.-121-19_-121-5dup | NP_001341731.1:n.-121-19_-121-5dup | |
| NM_001354803.1:c.54-19_54-5dup | NP_001341732.1:n.54-19_54-5dup | |
| NM_033507.2:c.1023-19_1023-5dup | NP_277042.1:n.1023-19_1023-5dup | |
| NM_033508.2:c.1017-19_1017-5dup | NP_277043.1:n.1017-19_1017-5dup | |
| XM_024446707.1:c.-121-19_-121-5dup | XP_024302475.1:n.-121-19_-121-5dup | |
| NM_000162.5:c.1020-19_1020-5dup MANE Select | NP_000153.1:n.1020-19_1020-5dup | |
| NM_033507.3:c.1023-19_1023-5dup | NP_277042.1:n.1023-19_1023-5dup | |
| NM_033508.3:c.1017-19_1017-5dup | NP_277043.1:n.1017-19_1017-5dup | |
| NM_001354803.2:c.54-19_54-5dup | NP_001341732.1:n.54-19_54-5dup |