Linked Data
dbSNP Id:
rs1252904911
gnomAD v3:
1-206768745-GAAACATAC-G
gnomAD v4:
1-206768745-GAAACATAC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.206768747_206768754del , CM000663.2:g.206768747_206768754del | GRCh38 |
| NC_000001.10:g.206942092_206942099del , CM000663.1:g.206942092_206942099del | GRCh37 |
| NC_000001.9:g.205008715_205008722del | NCBI36 |
| NG_012088.1:g.8742_8749del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367099.4:n.1425_1432del | ||
| ENST00000471071.2:c.190-25_190-18del | ENSP00000493073.2:n.190-25_190-18del | |
| ENST00000640756.2:n.255-25_255-18del | ||
| ENST00000659065.2:c.328-25_328-18del | ENSP00000499588.1:n.328-25_328-18del | |
| ENST00000659642.2:c.328-25_328-18del | ENSP00000499509.1:n.328-25_328-18del | |
| ENST00000664374.2:c.328-25_328-18del | ENSP00000499664.1:n.328-25_328-18del | |
| ENST00000640756.1:n.244-25_244-18del | ||
| ENST00000659065.1:c.328-25_328-18del | ENSP00000499588.1:n.328-25_328-18del | |
| ENST00000659642.1:c.328-25_328-18del | ENSP00000499509.1:n.328-25_328-18del | |
| ENST00000664374.1:c.328-25_328-18del | ENSP00000499664.1:n.328-25_328-18del | |
| ENST00000423557.1:c.445-25_445-18del MANE Select | ENSP00000412237.1:n.445-25_445-18del | |
| ENST00000471071.1:n.360-25_360-18del | ||
| NM_000572.2:c.445-25_445-18del | NP_000563.1:n.445-25_445-18del | |
| XM_011509506.1:c.445-25_445-18del | XP_011507808.1:n.445-25_445-18del | |
| NM_000572.3:c.445-25_445-18del MANE Select | NP_000563.1:n.445-25_445-18del | |
| NM_001382624.1:c.190-25_190-18del | NP_001369553.1:n.190-25_190-18del | |
| NR_168466.1:n.742-25_742-18del | ||
| NR_168467.1:n.272-25_272-18del |