Linked Data
dbSNP Id:
rs55898207
gnomAD v3:
1-11801923-C-CAAAAAAAAAAA
gnomAD v4:
1-11801923-C-CAAAAAAAAAAA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.11801937_11801947dup , CM000663.2:g.11801937_11801947dup | GRCh38 |
| NC_000001.10:g.11861994_11862004dup , CM000663.1:g.11861994_11862004dup | GRCh37 |
| NC_000001.9:g.11784581_11784591dup | NCBI36 |
| NG_008766.1:g.788_798dup | |
| NG_013351.1:g.9170_9180dup , LRG_726:g.9170_9180dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376486.3:c.237-535_237-525dup | ENSP00000365669.3:n.237-535_237-525dup | |
| ENST00000376585.6:c.360-535_360-525dup | ENSP00000365770.1:n.360-535_360-525dup | |
| ENST00000376590.9:c.237-535_237-525dup MANE Select | ENSP00000365775.3:n.237-535_237-525dup | |
| ENST00000376592.6:c.237-535_237-525dup | ENSP00000365777.1:n.237-535_237-525dup | |
| ENST00000423400.7:c.357-535_357-525dup | ENSP00000398908.3:n.357-535_357-525dup | |
| ENST00000431243.6:n.1018-518_1018-508dup | ||
| ENST00000641407.1:c.237-535_237-525dup | ENSP00000493098.1:n.237-535_237-525dup | |
| ENST00000641437.1:n.369-535_369-525dup | ||
| ENST00000641446.1:c.237-535_237-525dup | ENSP00000493262.1:n.237-535_237-525dup | |
| ENST00000641721.1:n.294-535_294-525dup | ||
| ENST00000641747.1:c.236+947_236+957dup | ENSP00000493116.1:n.236+947_236+957dup | |
| ENST00000641759.1:n.372-535_372-525dup | ||
| ENST00000641805.1:n.520-535_520-525dup | ||
| ENST00000641909.1:n.647-535_647-525dup | ||
| ENST00000642002.1:n.466-518_466-508dup | ||
| ENST00000376583.7:c.360-535_360-525dup | ENSP00000365767.3:n.360-535_360-525dup | |
| ENST00000376585.5:c.360-535_360-525dup | ENSP00000365770.1:n.360-535_360-525dup | |
| ENST00000376590.7:c.237-535_237-525dup | ENSP00000365775.3:n.237-535_237-525dup | |
| ENST00000376592.5:c.237-535_237-525dup | ENSP00000365777.1:n.237-535_237-525dup | |
| ENST00000418034.1:c.237-535_237-525dup | ENSP00000405082.1:n.237-535_237-525dup | |
| NM_005957.4:c.237-535_237-525dup , LRG_726t1:c.237-535_237-525dup | NP_005948.3:n.237-535_237-525dup | |
| XM_005263458.2:c.360-535_360-525dup | XP_005263515.1:n.360-535_360-525dup | |
| XM_005263460.3:c.237-535_237-525dup | XP_005263517.1:n.237-535_237-525dup | |
| XM_005263461.3:c.237-535_237-525dup | XP_005263518.1:n.237-535_237-525dup | |
| XM_005263462.3:c.237-535_237-525dup | XP_005263519.1:n.237-535_237-525dup | |
| XM_005263463.2:c.-27-518_-27-508dup | XP_005263520.1:n.-27-518_-27-508dup | |
| XM_011541495.1:c.357-535_357-525dup | XP_011539797.1:n.357-535_357-525dup | |
| XM_011541496.1:c.360-535_360-525dup | XP_011539798.1:n.360-535_360-525dup | |
| NM_001330358.1:c.360-535_360-525dup | NP_001317287.1:n.360-535_360-525dup | |
| XM_005263460.5:c.237-535_237-525dup | XP_005263517.1:n.237-535_237-525dup | |
| XM_005263462.4:c.237-535_237-525dup | XP_005263519.1:n.237-535_237-525dup | |
| XM_005263463.4:c.-27-518_-27-508dup | XP_005263520.1:n.-27-518_-27-508dup | |
| XM_011541495.3:c.357-535_357-525dup | XP_011539797.1:n.357-535_357-525dup | |
| XM_011541496.3:c.360-535_360-525dup | XP_011539798.1:n.360-535_360-525dup | |
| XM_017001328.2:c.360-535_360-525dup | XP_016856817.1:n.360-535_360-525dup | |
| XM_024447198.1:c.-27-518_-27-508dup | XP_024302966.1:n.-27-518_-27-508dup | |
| XR_002956640.1:n.1104-535_1104-525dup | ||
| NM_005957.5:c.237-535_237-525dup MANE Select | NP_005948.3:n.237-535_237-525dup | |
| NM_001330358.2:c.360-535_360-525dup | NP_001317287.1:n.360-535_360-525dup |