Linked Data
ClinVar Variation Id:
208189
ClinVar RCV Id:
RCV000190385
dbSNP Id:
rs1553173467
ExAC:
1:1273563 TCTGGCGGGGGAGGGTAGGTGAGGGCCGCGGAGGGGCCTCCGGCGTTCCCCTCCCCCCCGCCCTGAAGCCCGAAGCCCCCACTCAC / T
gnomAD v2:
1-1273563-TCTGGCGGGGGAGGGTAGGTGAGGGCCGCGGAGGGGCCTCCGGCGTTCCCCTCCCCCCCGCCCTGAAGCCCGAAGCCCCCACTCAC-T
gnomAD v3:
1-1338183-TCTGGCGGGGGAGGGTAGGTGAGGGCCGCGGAGGGGCCTCCGGCGTTCCCCTCCCCCCCGCCCTGAAGCCCGAAGCCCCCACTCAC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.1338184_1338268del , CM000663.2:g.1338184_1338268del | GRCh38 |
| NC_000001.10:g.1273564_1273648del , CM000663.1:g.1273564_1273648del | GRCh37 |
| NC_000001.9:g.1263427_1263511del | NCBI36 |
| NG_008048.1:g.15845_15929del | |
| NG_008048.2:g.15845_15929del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378888.10:c.1507+1_1508-1del MANE Select | ENSP00000368166.5:n.1507+1_1508-1del | |
| ENST00000378888.9:c.1507+1_1508-1del | ENSP00000368166.5:n.1507+1_1508-1del | |
| ENST00000378891.9:c.1432+1_1433-1del | ENSP00000368169.5:n.1432+1_1433-1del | |
| ENST00000610709.2:c.754+1_755-1del | ENSP00000480077.1:n.754+1_755-1del | |
| ENST00000631679.1:c.538+1_539-1del | ENSP00000488181.1:n.538+1_539-1del | |
| ENST00000632445.1:c.436+1_437-1del | ENSP00000488888.1:n.436+1_437-1del | |
| NM_004421.2:c.1432+1_1433-1del | NP_004412.2:n.1432+1_1433-1del | |
| XM_005244731.2:c.1507+1_1508-1del | XP_005244788.1:n.1507+1_1508-1del | |
| XM_005244732.2:c.1507+1_1508-1del | XP_005244789.1:n.1507+1_1508-1del | |
| XM_005244733.2:c.1432+1_1433-1del | XP_005244790.1:n.1432+1_1433-1del | |
| NM_001330311.1:c.1507+1_1508-1del | NP_001317240.1:n.1507+1_1508-1del | |
| XM_005244732.4:c.1507+1_1508-1del | XP_005244789.1:n.1507+1_1508-1del | |
| XM_005244733.4:c.1432+1_1433-1del | XP_005244790.1:n.1432+1_1433-1del | |
| NM_001330311.2:c.1507+1_1508-1del MANE Select | NP_001317240.1:n.1507+1_1508-1del | |
| NM_004421.3:c.1432+1_1433-1del | NP_004412.2:n.1432+1_1433-1del |