Linked Data
ClinVar Variation Id:
1242192
ClinVar RCV Id:
RCV001648042
dbSNP Id:
rs143392722
gnomAD v2:
17-76421360-TTTATC-T
gnomAD v3:
17-78425279-TTTATC-T
gnomAD v4:
17-78425279-TTTATC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.78425282_78425286del , CM000679.2:g.78425282_78425286del | GRCh38 |
| NC_000017.10:g.76421363_76421367del , CM000679.1:g.76421363_76421367del | GRCh37 |
| NC_000017.9:g.73932958_73932962del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389840.7:c.13141+62_13141+66del MANE Select | ENSP00000374490.6:n.13141+62_13141+66del | |
| ENST00000389840.6:c.13141+62_13141+66del | ENSP00000374490.6:n.13141+62_13141+66del | |
| ENST00000585328.5:c.13126+62_13126+66del | ENSP00000465516.1:n.13126+62_13126+66del | |
| ENST00000586052.5:n.6302+62_6302+66del | ||
| ENST00000590227.5:n.2815+62_2815+66del | ||
| ENST00000591369.5:c.4763+62_4763+66del | ||
| NM_173628.3:c.13141+62_13141+66del | NP_775899.3:n.13141+62_13141+66del | |
| XM_011525416.1:c.13153+62_13153+66del | XP_011523718.1:n.13153+62_13153+66del | |
| XM_011525418.1:c.6520+62_6520+66del | XP_011523720.1:n.6520+62_6520+66del | |
| XM_011525416.2:c.13153+62_13153+66del | XP_011523718.1:n.13153+62_13153+66del | |
| XM_017025261.2:c.6487+62_6487+66del | XP_016880750.1:n.6487+62_6487+66del | |
| XM_024451013.1:c.13009+62_13009+66del | XP_024306781.1:n.13009+62_13009+66del | |
| NM_173628.4:c.13141+62_13141+66del MANE Select | NP_775899.3:n.13141+62_13141+66del |