Linked Data
dbSNP Id:
rs760722342
ExAC:
1:11863212 CA / C
gnomAD v2:
1-11863212-CA-C
gnomAD v4:
1-11803155-CA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.11803156del , CM000663.2:g.11803156del | GRCh38 |
| NC_000001.10:g.11863213del , CM000663.1:g.11863213del | GRCh37 |
| NC_000001.9:g.11785800del | NCBI36 |
| NG_008766.1:g.2007del | |
| NG_013351.1:g.7948del , LRG_726:g.7948del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376486.3:c.-10-30del | ENSP00000365669.3:n.-10-30del | |
| ENST00000376585.6:c.111-27del | ENSP00000365770.1:n.111-27del | |
| ENST00000376590.9:c.-13-27del MANE Select | ENSP00000365775.3:n.-13-27del | |
| ENST00000376592.6:c.-40del | ENSP00000365777.1:n.-40del | |
| ENST00000423400.7:c.111-30del | ENSP00000398908.3:n.111-30del | |
| ENST00000431243.6:n.769-27del | ||
| ENST00000641407.1:c.-40del | ENSP00000493098.1:n.-40del | |
| ENST00000641437.1:n.120-27del | ||
| ENST00000641446.1:c.-13-27del | ENSP00000493262.1:n.-13-27del | |
| ENST00000641721.1:n.45-27del | ||
| ENST00000641747.1:c.-13-27del | ENSP00000493116.1:n.-13-27del | |
| ENST00000641759.1:n.123-27del | ||
| ENST00000641805.1:n.274-30del | ||
| ENST00000641909.1:n.371del | ||
| ENST00000642002.1:n.217-27del | ||
| ENST00000376486.2:c.-13-27del | ENSP00000365669.2:n.-13-27del | |
| ENST00000376583.7:c.111-27del | ENSP00000365767.3:n.111-27del | |
| ENST00000376585.5:c.111-27del | ENSP00000365770.1:n.111-27del | |
| ENST00000376590.7:c.-13-27del | ENSP00000365775.3:n.-13-27del | |
| ENST00000376592.5:c.-40del | ENSP00000365777.1:n.-40del | |
| ENST00000413656.5:c.-13-27del | ENSP00000408307.1:n.-13-27del | |
| ENST00000418034.1:c.-13-27del | ENSP00000405082.1:n.-13-27del | |
| ENST00000423400.5:c.30del | ENSP00000398908.1:p.Asp11MetfsTer15 | |
| ENST00000431243.5:c.-13-27del | ENSP00000400460.1:n.-13-27del | |
| NM_005957.4:c.-13-27del , LRG_726t1:c.-13-27del | NP_005948.3:n.-13-27del | |
| XM_005263458.2:c.111-27del | XP_005263515.1:n.111-27del | |
| XM_005263460.3:c.-13-27del | XP_005263517.1:n.-13-27del | |
| XM_005263461.3:c.-10-30del | XP_005263518.1:n.-10-30del | |
| XM_005263462.3:c.-10-30del | XP_005263519.1:n.-10-30del | |
| XM_005263463.2:c.-276-27del | XP_005263520.1:n.-276-27del | |
| XM_011541495.1:c.111-30del | XP_011539797.1:n.111-30del | |
| XM_011541496.1:c.111-27del | XP_011539798.1:n.111-27del | |
| NM_001330358.1:c.111-27del | NP_001317287.1:n.111-27del | |
| XM_005263460.5:c.-13-27del | XP_005263517.1:n.-13-27del | |
| XM_005263462.4:c.-10-30del | XP_005263519.1:n.-10-30del | |
| XM_005263463.4:c.-276-27del | XP_005263520.1:n.-276-27del | |
| XM_011541495.3:c.111-30del | XP_011539797.1:n.111-30del | |
| XM_011541496.3:c.111-27del | XP_011539798.1:n.111-27del | |
| XM_017001328.2:c.111-27del | XP_016856817.1:n.111-27del | |
| XM_024447198.1:c.-276-27del | XP_024302966.1:n.-276-27del | |
| XR_002956640.1:n.858-30del | ||
| NM_005957.5:c.-13-27del MANE Select | NP_005948.3:n.-13-27del | |
| NM_001330358.2:c.111-27del | NP_001317287.1:n.111-27del |