Linked Data
dbSNP Id:
rs35162950
gnomAD v3:
1-237808654-C-CAAAAAAAAAAA
gnomAD v4:
1-237808654-C-CAAAAAAAAAAA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.237808658_237808668dup , CM000663.2:g.237808658_237808668dup | GRCh38 |
| NC_000001.10:g.237971958_237971968dup , CM000663.1:g.237971958_237971968dup | GRCh37 |
| NC_000001.9:g.236038581_236038591dup | NCBI36 |
| NG_008799.2:g.771257_771267dup | |
| NG_008799.3:g.771475_771485dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000609119.2:c.*5391-243_*5391-233dup | ENSP00000499659.2:n.*5391-243_*5391-233dup | |
| ENST00000659194.3:c.14281-243_14281-233dup | ENSP00000499653.3:n.14281-243_14281-233dup | |
| ENST00000660292.2:c.14320-243_14320-233dup | ENSP00000499787.2:n.14320-243_14320-233dup | |
| ENST00000659194.2:c.6470-243_6470-233dup | ||
| ENST00000366574.7:c.14299-243_14299-233dup MANE Select | ENSP00000355533.2:n.14299-243_14299-233dup | |
| ENST00000360064.7:c.14248-243_14248-233dup | ENSP00000353174.7:n.14248-243_14248-233dup | |
| ENST00000366574.6:c.14299-243_14299-233dup | ENSP00000355533.2:n.14299-243_14299-233dup | |
| ENST00000608590.5:n.810-243_810-233dup | ||
| NM_001035.2:c.14299-243_14299-233dup | NP_001026.2:n.14299-243_14299-233dup | |
| XM_006711802.2:c.14353-243_14353-233dup | XP_006711865.1:n.14353-243_14353-233dup | |
| XM_006711803.2:c.14350-243_14350-233dup | XP_006711866.1:n.14350-243_14350-233dup | |
| XM_006711804.2:c.14329-243_14329-233dup | XP_006711867.1:n.14329-243_14329-233dup | |
| XM_006711805.2:c.14323-243_14323-233dup | XP_006711868.1:n.14323-243_14323-233dup | |
| XM_006711806.2:c.14317-243_14317-233dup | XP_006711869.1:n.14317-243_14317-233dup | |
| XM_006711807.2:c.14293-243_14293-233dup | XP_006711870.1:n.14293-243_14293-233dup | |
| XM_006711808.2:c.14116-243_14116-233dup | XP_006711871.1:n.14116-243_14116-233dup | |
| XM_006711810.2:c.14260-243_14260-233dup | XP_006711873.1:n.14260-243_14260-233dup | |
| XM_006711802.3:c.14353-243_14353-233dup | XP_006711865.1:n.14353-243_14353-233dup | |
| XM_006711803.3:c.14350-243_14350-233dup | XP_006711866.1:n.14350-243_14350-233dup | |
| XM_006711804.3:c.14329-243_14329-233dup | XP_006711867.1:n.14329-243_14329-233dup | |
| XM_006711805.3:c.14323-243_14323-233dup | XP_006711868.1:n.14323-243_14323-233dup | |
| XM_006711806.3:c.14317-243_14317-233dup | XP_006711869.1:n.14317-243_14317-233dup | |
| XM_006711807.3:c.14293-243_14293-233dup | XP_006711870.1:n.14293-243_14293-233dup | |
| XM_006711808.3:c.14116-243_14116-233dup | XP_006711871.1:n.14116-243_14116-233dup | |
| XM_006711810.3:c.14260-243_14260-233dup | XP_006711873.1:n.14260-243_14260-233dup | |
| XM_017002028.1:c.14332-243_14332-233dup | XP_016857517.1:n.14332-243_14332-233dup | |
| NM_001035.3:c.14299-243_14299-233dup MANE Select | NP_001026.2:n.14299-243_14299-233dup |