Linked Data
ClinVar Variation Id:
2721413
ClinVar RCV Id:
RCV003556459
dbSNP Id:
rs776042162
ExAC:
2:135893121 CTCTTT / C
gnomAD v3:
2-135135551-CTCTTT-C
gnomAD v4:
2-135135551-CTCTTT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.135135556_135135560del , CM000664.2:g.135135556_135135560del | GRCh38 |
| NC_000002.11:g.135893126_135893130del , CM000664.1:g.135893126_135893130del | GRCh37 |
| NC_000002.10:g.135609596_135609600del | NCBI36 |
| NG_016972.1:g.88292_88296del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000539493.3:c.1555-8_1555-4del | ENSP00000444306.2:n.1555-8_1555-4del | |
| ENST00000685967.1:c.*1012-8_*1012-4del | ENSP00000508423.1:n.*1012-8_*1012-4del | |
| ENST00000686114.1:n.1901-8_1901-4del | ||
| ENST00000687199.1:c.*1623-8_*1623-4del | ENSP00000510319.1:n.*1623-8_*1623-4del | |
| ENST00000688088.1:n.1574-8_1574-4del | ||
| ENST00000688182.1:c.151-32137_151-32133del | ENSP00000509324.1:n.151-32137_151-32133del | |
| ENST00000689880.1:n.1574-8_1574-4del | ||
| ENST00000690208.1:c.*1233-8_*1233-4del | ENSP00000510746.1:n.*1233-8_*1233-4del | |
| ENST00000690785.1:n.1574-8_1574-4del | ||
| ENST00000691339.1:c.*1178-8_*1178-4del | ENSP00000509953.1:n.*1178-8_*1178-4del | |
| ENST00000691478.1:c.*1654-8_*1654-4del | ENSP00000509081.1:n.*1654-8_*1654-4del | |
| ENST00000693554.1:c.1555-8_1555-4del | ENSP00000509030.1:n.1555-8_1555-4del | |
| ENST00000264158.13:c.1555-8_1555-4del MANE Select | ENSP00000264158.8:n.1555-8_1555-4del | |
| ENST00000264158.12:c.1555-8_1555-4del | ENSP00000264158.7:n.1555-8_1555-4del | |
| ENST00000442034.5:c.1555-8_1555-4del | ENSP00000411418.1:n.1555-8_1555-4del | |
| ENST00000487003.5:n.1624-8_1624-4del | ||
| ENST00000539493.2:c.1423-8_1423-4del | ENSP00000444306.1:n.1423-8_1423-4del | |
| NM_001172435.1:c.1555-8_1555-4del | NP_001165906.1:n.1555-8_1555-4del | |
| NM_012233.2:c.1555-8_1555-4del | NP_036365.1:n.1555-8_1555-4del | |
| XM_011510822.1:c.1555-8_1555-4del | XP_011509124.1:n.1555-8_1555-4del | |
| XM_011510823.1:c.1555-8_1555-4del | XP_011509125.1:n.1555-8_1555-4del | |
| XM_011510824.1:c.1555-8_1555-4del | XP_011509126.1:n.1555-8_1555-4del | |
| XM_011510825.1:c.1555-8_1555-4del | XP_011509127.1:n.1555-8_1555-4del | |
| XM_011510823.3:c.1555-8_1555-4del | XP_011509125.1:n.1555-8_1555-4del | |
| XM_011510825.3:c.1555-8_1555-4del | XP_011509127.1:n.1555-8_1555-4del | |
| XR_001738674.2:n.1582-8_1582-4del | ||
| NM_001172435.2:c.1555-8_1555-4del | NP_001165906.1:n.1555-8_1555-4del | |
| NM_012233.3:c.1555-8_1555-4del MANE Select | NP_036365.1:n.1555-8_1555-4del |