Linked Data
dbSNP Id:
rs1309356039
gnomAD v2:
4-155490966-CTT-C
gnomAD v3:
4-154569814-CTT-C
gnomAD v4:
4-154569814-CTT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.154569816_154569817del , CM000666.2:g.154569816_154569817del | GRCh38 |
| NC_000004.11:g.155490968_155490969del , CM000666.1:g.155490968_155490969del | GRCh37 |
| NC_000004.10:g.155710418_155710419del | NCBI36 |
| NG_008833.1:g.11837_11838del , LRG_558:g.11837_11838del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302068.9:c.1244+17_1244+18del MANE Select | ENSP00000306099.4:n.1244+17_1244+18del | |
| ENST00000302068.8:c.1244+17_1244+18del | ENSP00000306099.4:n.1244+17_1244+18del | |
| ENST00000502545.5:n.939+509_939+510del | ||
| ENST00000509493.1:c.587+17_587+18del | ENSP00000426757.1:n.587+17_587+18del | |
| NM_001184741.1:c.1067+17_1067+18del | NP_001171670.1:n.1067+17_1067+18del | |
| NM_005141.4:c.1244+17_1244+18del , LRG_558t1:c.1244+17_1244+18del | NP_005132.2:n.1244+17_1244+18del | |
| NM_001382759.1:c.1112+17_1112+18del | NP_001369688.1:n.1112+17_1112+18del | |
| NM_001382760.1:c.1244+17_1244+18del | NP_001369689.1:n.1244+17_1244+18del | |
| NM_001382761.1:c.1244+17_1244+18del | NP_001369690.1:n.1244+17_1244+18del | |
| NM_001382762.1:c.944+17_944+18del | NP_001369691.1:n.944+17_944+18del | |
| NM_001382763.1:c.1235+17_1235+18del | NP_001369692.1:n.1235+17_1235+18del | |
| NM_001382764.1:c.*18+17_*18+18del | NP_001369693.1:n.*18+17_*18+18del | |
| NM_001382765.1:c.1220+41_1220+42del | NP_001369694.1:n.1220+41_1220+42del | |
| NM_005141.5:c.1244+17_1244+18del MANE Select | NP_005132.2:n.1244+17_1244+18del |