Linked Data
ClinVar Variation Id:
1016896
ClinVar RCV Id:
RCV001315968
dbSNP Id:
rs1815339349
gnomAD v4:
8-144517411-T-TACC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.144517412_144517414dup , CM000670.2:g.144517412_144517414dup | GRCh38 |
| NC_000008.10:g.145742796_145742798dup , CM000670.1:g.145742796_145742798dup | GRCh37 |
| NC_000008.9:g.145713604_145713606dup | NCBI36 |
| NG_016430.1:g.5413_5415dup | |
| NG_033083.1:g.4448_4450dup | |
| NG_016430.2:g.5413_5415dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000617875.6:c.213_213+2dup | ||
| ENST00000524998.1:c.86_86+2dup | ||
| ENST00000534270.1:n.159_159+2dup | ||
| ENST00000534538.1:c.167_167+2dup | ||
| ENST00000617875.4:c.213_213+2dup | ||
| ENST00000621189.4:c.-859_-859+2dup | ||
| NM_004260.3:c.213_213+2dup | ||
| XM_011517380.1:c.213_213+2dup | ||
| XM_011517381.1:c.213_213+2dup | ||
| XM_011517382.1:c.213_213+2dup | ||
| XM_011517383.1:c.213_213+2dup | ||
| XM_011517384.1:c.213_213+2dup | ||
| XR_928366.1:n.254_254+2dup | ||
| XR_928367.1:n.254_254+2dup | ||
| XR_928368.1:n.256_256+2dup | ||
| XM_011517384.3:c.213_213+2dup | ||
| XM_017013991.2:c.213_213+2dup | ||
| XM_017013992.2:c.213_213+2dup | ||
| XM_017013993.2:c.213_213+2dup | ||
| XM_017013994.2:c.213_213+2dup | ||
| XM_017013995.2:c.213_213+2dup | ||
| XM_017013996.2:c.213_213+2dup | ||
| XM_017013997.2:c.213_213+2dup | ||
| XM_017013998.1:c.213_213+2dup | ||
| XM_017013999.2:c.213_213+2dup | ||
| XM_017014001.2:c.-921_-921+2dup | ||
| XR_001745626.2:n.250_250+2dup | ||
| XR_001745627.2:n.250_250+2dup | ||
| XR_001745628.2:n.250_250+2dup | ||
| XR_001745629.2:n.250_250+2dup | ||
| XR_001745630.2:n.250_250+2dup | ||
| NM_004260.4:c.213_213+2dup |