Linked Data
ClinVar Variation Id:
522513
dbSNP Id:
rs773497189
ExAC:
2:182402955 T / TAAGTC
gnomAD v2:
2-182402955-T-TAAGTC
gnomAD v3:
2-181538228-T-TAAGTC
gnomAD v4:
2-181538228-T-TAAGTC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.181538229_181538233dup , CM000664.2:g.181538229_181538233dup | GRCh38 |
| NC_000002.11:g.182402956_182402960dup , CM000664.1:g.182402956_182402960dup | GRCh37 |
| NC_000002.10:g.182111201_182111205dup | NCBI36 |
| NG_021178.1:g.123875_123879dup | |
| NG_050623.1:g.86338_86342dup | |
| NG_021178.2:g.123875_123879dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684145.1:c.794_798dup (CERKL) | ENSP00000508396.1:p.Ile267AspfsTer13 | |
| ENST00000397033.7:c.*2702_*2706dup (ITGA4) MANE Select | ENSP00000380227.2:n.*2702_*2706dup | |
| ENST00000410087.8:c.1550_1554dup (CERKL) MANE Select | ENSP00000386725.3:p.Ile519AspfsTer13 | |
| ENST00000339098.9:c.1628_1632dup (CERKL) | ENSP00000341159.5:p.Ile545AspfsTer13 | |
| ENST00000374967.6:c.1486_1490dup (CERKL) | ENSP00000364106.2:n.1486_1490dup | |
| ENST00000374969.6:c.1211_1215dup (CERKL) | ENSP00000364108.2:p.Ile406AspfsTer13 | |
| ENST00000374970.6:c.1343_1347dup (CERKL) | ENSP00000364109.2:p.Ile450AspfsTer13 | |
| ENST00000409440.7:c.1496_1500dup (CERKL) | ENSP00000387080.3:p.Ile501AspfsTer13 | |
| ENST00000410087.7:c.1550_1554dup (CERKL) | ENSP00000386725.3:p.Ile519AspfsTer13 | |
| ENST00000421817.5:c.*806_*810dup (CERKL) | ENSP00000411466.1:n.*806_*810dup | |
| ENST00000452174.5:c.1354_1358dup (CERKL) | ENSP00000409198.1:n.1354_1358dup | |
| ENST00000494398.5:n.2342_2346dup (CERKL) | ||
| NM_000885.5:c.*2702_*2706dup (ITGA4) | NP_000876.3:n.*2702_*2706dup | |
| NM_001030311.2:c.1628_1632dup (CERKL) | NP_001025482.1:p.Ile545AspfsTer13 | |
| NM_001030312.2:c.1211_1215dup (CERKL) | NP_001025483.1:p.Ile406AspfsTer13 | |
| NM_001030313.2:c.1343_1347dup (CERKL) | NP_001025484.1:p.Ile450AspfsTer13 | |
| NM_001160277.1:c.1496_1500dup (CERKL) | NP_001153749.1:p.Ile501AspfsTer13 | |
| NM_201548.4:c.1550_1554dup (CERKL) | NP_963842.1:p.Ile519AspfsTer13 | |
| NR_027689.1:n.1455_1459dup (CERKL) | ||
| NR_027690.1:n.1587_1591dup (CERKL) | ||
| NM_000885.6:c.*2702_*2706dup (ITGA4) MANE Select | NP_000876.3:n.*2702_*2706dup | |
| NM_201548.5:c.1550_1554dup (CERKL) MANE Select | NP_963842.1:p.Ile519AspfsTer13 | |
| NM_001030311.3:c.1628_1632dup (CERKL) | NP_001025482.1:p.Ile545AspfsTer13 | |
| NM_001030312.3:c.1211_1215dup (CERKL) | NP_001025483.1:p.Ile406AspfsTer13 | |
| NM_001030313.3:c.1343_1347dup (CERKL) | NP_001025484.1:p.Ile450AspfsTer13 | |
| NM_001160277.2:c.1496_1500dup (CERKL) | NP_001153749.1:p.Ile501AspfsTer13 | |
| NR_027689.2:n.1453_1457dup (CERKL) | ||
| NR_027690.2:n.1585_1589dup (CERKL) |