Linked Data
ClinVar Variation Id:
212740
ClinVar RCV Id:
RCV000194102
dbSNP Id:
rs797044608
gnomAD v4:
13-23335026-A-ATG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.23335027_23335028dup , CM000675.2:g.23335027_23335028dup | GRCh38 |
| NC_000013.10:g.23909166_23909167dup , CM000675.1:g.23909166_23909167dup | GRCh37 |
| NC_000013.9:g.22807166_22807167dup | NCBI36 |
| NG_012342.1:g.103675_103676dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682775.1:c.2185+18757_2185+18758dup | ENSP00000508399.1:n.2185+18757_2185+18758dup | |
| ENST00000682944.1:c.8875_8876dup | ENSP00000507173.1:p.Val2960MetfsTer3 | |
| ENST00000683210.1:c.2185+18757_2185+18758dup | ENSP00000506739.1:n.2185+18757_2185+18758dup | |
| ENST00000683270.1:c.6445+2394_6445+2395dup | ENSP00000507624.1:n.6445+2394_6445+2395dup | |
| ENST00000683367.1:c.2177-5544_2177-5543dup | ENSP00000507780.1:n.2177-5544_2177-5543dup | |
| ENST00000683489.1:c.2292-5076_2292-5075dup | ENSP00000508403.1:n.2292-5076_2292-5075dup | |
| ENST00000683680.1:c.2319-5076_2319-5075dup | ENSP00000507223.1:n.2319-5076_2319-5075dup | |
| ENST00000684163.1:c.2204-5544_2204-5543dup | ENSP00000508262.1:n.2204-5544_2204-5543dup | |
| ENST00000684196.1:n.4543-5544_4543-5543dup | ||
| ENST00000684325.1:c.2186-13354_2186-13353dup | ENSP00000508121.1:n.2186-13354_2186-13353dup | |
| ENST00000684385.1:c.2221-5544_2221-5543dup | ENSP00000507855.1:n.2221-5544_2221-5543dup | |
| ENST00000684497.1:c.2186-12384_2186-12383dup | ENSP00000507057.1:n.2186-12384_2186-12383dup | |
| ENST00000382292.9:c.8848_8849dup MANE Select | ENSP00000371729.3:p.Val2951MetfsTer3 | |
| ENST00000423156.2:c.2186-5544_2186-5543dup | ENSP00000390925.2:n.2186-5544_2186-5543dup | |
| ENST00000455470.6:c.2432-5544_2432-5543dup | ENSP00000406565.2:n.2432-5544_2432-5543dup | |
| ENST00000382292.7:c.8848_8849dup | ENSP00000371729.3:p.Val2951MetfsTer3 | |
| ENST00000382298.7:c.8848_8849dup | ENSP00000371735.3:p.Val2951MetfsTer3 | |
| ENST00000402364.1:c.6598_6599dup | ENSP00000385844.1:p.Val2201MetfsTer3 | |
| ENST00000423156.1:c.1058-5544_1058-5543dup | ENSP00000390925.1:n.1058-5544_1058-5543dup | |
| ENST00000455470.5:c.2130-5544_2130-5543dup | ||
| NM_001278055.1:c.8407_8408dup | NP_001264984.1:p.Val2804MetfsTer3 | |
| NM_014363.5:c.8848_8849dup | NP_055178.3:p.Val2951MetfsTer3 | |
| XM_005266338.1:c.8875_8876dup | XP_005266395.1:p.Val2960MetfsTer3 | |
| XM_011535038.1:c.8899_8900dup | XP_011533340.1:p.Val2968MetfsTer3 | |
| XM_011535039.1:c.8866_8867dup | XP_011533341.1:p.Val2957MetfsTer3 | |
| XM_005266338.2:c.8875_8876dup | XP_005266395.1:p.Val2960MetfsTer3 | |
| XM_011535039.2:c.8866_8867dup | XP_011533341.1:p.Val2957MetfsTer3 | |
| XM_017020539.1:c.8839_8840dup | XP_016876028.1:p.Val2948MetfsTer3 | |
| XM_024449337.1:c.8875_8876dup | XP_024305105.1:p.Val2960MetfsTer3 | |
| NM_014363.6:c.8848_8849dup MANE Select | NP_055178.3:p.Val2951MetfsTer3 | |
| NM_001278055.2:c.8407_8408dup | NP_001264984.1:p.Val2804MetfsTer3 |