Linked Data
dbSNP Id:
rs1309148202
gnomAD v2:
10-13167909-TC-T
gnomAD v3:
10-13125909-TC-T
gnomAD v4:
10-13125909-TC-T
MyVariant Identifiers:
chr10:g.13167910del (hg19)
chr10:g.13125911del (hg38)
chr10:g.13125910del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.13125913del , CM000672.2:g.13125913del | GRCh38 |
| NC_000010.10:g.13167913del , CM000672.1:g.13167913del | GRCh37 |
| NC_000010.9:g.13207919del | NCBI36 |
| NG_012876.1:g.30832del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378747.8:c.1149-33del MANE Select | ENSP00000368021.3:n.1149-33del | |
| ENST00000263036.9:c.1149-33del | ENSP00000263036.3:n.1149-33del | |
| ENST00000378747.7:c.1149-33del | ENSP00000368021.3:n.1149-33del | |
| ENST00000378748.7:c.1149-33del | ENSP00000368022.3:n.1149-33del | |
| ENST00000378752.7:c.1131-33del | ENSP00000368027.3:n.1131-33del | |
| ENST00000378757.6:c.1149-33del | ENSP00000368032.2:n.1149-33del | |
| ENST00000378764.6:c.1131-33del | ENSP00000368040.1:n.1131-33del | |
| NM_001008211.1:c.1149-33del | NP_001008212.1:n.1149-33del | |
| NM_001008212.1:c.1149-33del | NP_001008213.1:n.1149-33del | |
| NM_001008213.1:c.1149-33del | NP_001008214.1:n.1149-33del | |
| NM_021980.4:c.1149-33del | NP_068815.2:n.1149-33del | |
| XM_005252336.2:c.1131-33del | XP_005252393.2:n.1131-33del | |
| XM_005252337.3:c.1131-33del | XP_005252394.2:n.1131-33del | |
| XM_005252338.2:c.978-33del | XP_005252395.2:n.978-33del | |
| NM_001008212.2:c.1149-33del MANE Select | NP_001008213.1:n.1149-33del |