Linked Data
ClinVar Variation Id:
425251
dbSNP Id:
rs1064797278
gnomAD v4:
2-181538217-A-ATAAAGACTGATAAGTCTTGG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.181538218_181538237dup , CM000664.2:g.181538218_181538237dup | GRCh38 |
| NC_000002.11:g.182402945_182402964dup , CM000664.1:g.182402945_182402964dup | GRCh37 |
| NC_000002.10:g.182111190_182111209dup | NCBI36 |
| NG_021178.1:g.123871_123890dup | |
| NG_050623.1:g.86327_86346dup | |
| NG_021178.2:g.123871_123890dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000684145.1:c.790_809dup (CERKL) | ENSP00000508396.1:p.Gly271GlnfsTer14 | |
| ENST00000397033.7:c.*2691_*2710dup (ITGA4) MANE Select | ENSP00000380227.2:n.*2691_*2710dup | |
| ENST00000410087.8:c.1546_1565dup (CERKL) MANE Select | ENSP00000386725.3:p.Gly523GlnfsTer14 | |
| ENST00000339098.9:c.1624_1643dup (CERKL) | ENSP00000341159.5:p.Gly549GlnfsTer14 | |
| ENST00000374967.6:c.1482_1501dup (CERKL) | ENSP00000364106.2:n.1482_1501dup | |
| ENST00000374969.6:c.1207_1226dup (CERKL) | ENSP00000364108.2:p.Gly410GlnfsTer14 | |
| ENST00000374970.6:c.1339_1358dup (CERKL) | ENSP00000364109.2:p.Gly454GlnfsTer14 | |
| ENST00000409440.7:c.1492_1511dup (CERKL) | ENSP00000387080.3:p.Gly505GlnfsTer14 | |
| ENST00000410087.7:c.1546_1565dup (CERKL) | ENSP00000386725.3:p.Gly523GlnfsTer14 | |
| ENST00000421817.5:c.*802_*821dup (CERKL) | ENSP00000411466.1:n.*802_*821dup | |
| ENST00000452174.5:c.1350_1369dup (CERKL) | ENSP00000409198.1:n.1350_1369dup | |
| ENST00000494398.5:n.2338_2357dup (CERKL) | ||
| NM_000885.5:c.*2691_*2710dup (ITGA4) | NP_000876.3:n.*2691_*2710dup | |
| NM_001030311.2:c.1624_1643dup (CERKL) | NP_001025482.1:p.Gly549GlnfsTer14 | |
| NM_001030312.2:c.1207_1226dup (CERKL) | NP_001025483.1:p.Gly410GlnfsTer14 | |
| NM_001030313.2:c.1339_1358dup (CERKL) | NP_001025484.1:p.Gly454GlnfsTer14 | |
| NM_001160277.1:c.1492_1511dup (CERKL) | NP_001153749.1:p.Gly505GlnfsTer14 | |
| NM_201548.4:c.1546_1565dup (CERKL) | NP_963842.1:p.Gly523GlnfsTer14 | |
| NR_027689.1:n.1451_1470dup (CERKL) | ||
| NR_027690.1:n.1583_1602dup (CERKL) | ||
| NM_000885.6:c.*2691_*2710dup (ITGA4) MANE Select | NP_000876.3:n.*2691_*2710dup | |
| NM_201548.5:c.1546_1565dup (CERKL) MANE Select | NP_963842.1:p.Gly523GlnfsTer14 | |
| NM_001030311.3:c.1624_1643dup (CERKL) | NP_001025482.1:p.Gly549GlnfsTer14 | |
| NM_001030312.3:c.1207_1226dup (CERKL) | NP_001025483.1:p.Gly410GlnfsTer14 | |
| NM_001030313.3:c.1339_1358dup (CERKL) | NP_001025484.1:p.Gly454GlnfsTer14 | |
| NM_001160277.2:c.1492_1511dup (CERKL) | NP_001153749.1:p.Gly505GlnfsTer14 | |
| NR_027689.2:n.1449_1468dup (CERKL) | ||
| NR_027690.2:n.1581_1600dup (CERKL) |