Linked Data
dbSNP Id:
rs1385774042
gnomAD v2:
12-133249895-CA-C
gnomAD v3:
12-132673309-CA-C
gnomAD v4:
12-132673309-CA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.132673314del , CM000674.2:g.132673314del | GRCh38 |
| NC_000012.11:g.133249900del , CM000674.1:g.133249900del | GRCh37 |
| NC_000012.10:g.131759973del | NCBI36 |
| NG_033840.1:g.19215del , LRG_789:g.19215del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000539215.6:c.68-33del | ||
| ENST00000545015.2:n.1387-33del | ||
| ENST00000699982.1:c.1214-33del | ||
| ENST00000699983.1:c.1214-33del | ||
| ENST00000699984.1:c.1214-33del | ||
| ENST00000320574.10:c.1360-33del MANE Select | ENSP00000322570.5:n.1360-33del | |
| ENST00000672742.1:c.*862-33del | ENSP00000500279.1:n.*862-33del | |
| ENST00000320574.9:c.1360-33del | ENSP00000322570.5:n.1360-33del | |
| ENST00000535270.5:c.1279-33del | ENSP00000445753.1:n.1279-33del | |
| ENST00000535934.2:n.1235-33del | ||
| ENST00000537064.5:c.*407-33del | ENSP00000442578.1:n.*407-33del | |
| ENST00000539215.5:n.68-33del | ||
| NM_006231.3:c.1360-33del , LRG_789t1:c.1360-33del | NP_006222.2:n.1360-33del | |
| XM_011534795.1:c.1360-33del | XP_011533097.1:n.1360-33del | |
| XM_011534796.1:c.1231-33del | XP_011533098.1:n.1231-33del | |
| XM_011534797.1:c.439-33del | XP_011533099.1:n.439-33del | |
| XM_011534798.1:c.22-33del | XP_011533100.1:n.22-33del | |
| XM_011534799.1:c.1360-33del | XP_011533101.1:n.1360-33del | |
| XM_011534800.1:c.1360-33del | XP_011533102.1:n.1360-33del | |
| XM_011534801.1:c.1360-33del | XP_011533103.1:n.1360-33del | |
| XR_941395.1:n.1569-33del | ||
| XM_011534795.3:c.1360-33del | XP_011533097.1:n.1360-33del | |
| XM_011534797.3:c.439-33del | XP_011533099.1:n.439-33del | |
| XM_011534799.2:c.1360-33del | XP_011533101.1:n.1360-33del | |
| XR_002957338.1:n.1564-33del | ||
| XR_002957339.1:n.1564-33del | ||
| XR_941395.2:n.1564-33del | ||
| NM_006231.4:c.1360-33del MANE Select | NP_006222.2:n.1360-33del |