Linked Data
dbSNP Id:
rs746076503
ExAC:
10:13167899 TATG / T
gnomAD v2:
10-13167899-TATG-T
gnomAD v3:
10-13125899-TATG-T
gnomAD v4:
10-13125899-TATG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.13125902_13125904del , CM000672.2:g.13125902_13125904del | GRCh38 |
| NC_000010.10:g.13167902_13167904del , CM000672.1:g.13167902_13167904del | GRCh37 |
| NC_000010.9:g.13207908_13207910del | NCBI36 |
| NG_012876.1:g.30821_30823del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378747.8:c.1149-44_1149-42del MANE Select | ENSP00000368021.3:n.1149-44_1149-42del | |
| ENST00000263036.9:c.1149-44_1149-42del | ENSP00000263036.3:n.1149-44_1149-42del | |
| ENST00000378747.7:c.1149-44_1149-42del | ENSP00000368021.3:n.1149-44_1149-42del | |
| ENST00000378748.7:c.1149-44_1149-42del | ENSP00000368022.3:n.1149-44_1149-42del | |
| ENST00000378752.7:c.1131-44_1131-42del | ENSP00000368027.3:n.1131-44_1131-42del | |
| ENST00000378757.6:c.1149-44_1149-42del | ENSP00000368032.2:n.1149-44_1149-42del | |
| ENST00000378764.6:c.1131-44_1131-42del | ENSP00000368040.1:n.1131-44_1131-42del | |
| NM_001008211.1:c.1149-44_1149-42del | NP_001008212.1:n.1149-44_1149-42del | |
| NM_001008212.1:c.1149-44_1149-42del | NP_001008213.1:n.1149-44_1149-42del | |
| NM_001008213.1:c.1149-44_1149-42del | NP_001008214.1:n.1149-44_1149-42del | |
| NM_021980.4:c.1149-44_1149-42del | NP_068815.2:n.1149-44_1149-42del | |
| XM_005252336.2:c.1131-44_1131-42del | XP_005252393.2:n.1131-44_1131-42del | |
| XM_005252337.3:c.1131-44_1131-42del | XP_005252394.2:n.1131-44_1131-42del | |
| XM_005252338.2:c.978-44_978-42del | XP_005252395.2:n.978-44_978-42del | |
| NM_001008212.2:c.1149-44_1149-42del MANE Select | NP_001008213.1:n.1149-44_1149-42del |