Linked Data
ClinVar Variation Id:
370406
ClinVar RCV Id:
RCV000410298
dbSNP Id:
rs1057516464
gnomAD v4:
13-23334044-AGTCTTTTAGAGTAT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.23334045_23334058del , CM000675.2:g.23334045_23334058del | GRCh38 |
| NC_000013.10:g.23908184_23908197del , CM000675.1:g.23908184_23908197del | GRCh37 |
| NC_000013.9:g.22806184_22806197del | NCBI36 |
| NG_012342.1:g.104645_104658del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682775.1:c.2185+19727_2185+19740del | ENSP00000508399.1:n.2185+19727_2185+19740... | |
| ENST00000682944.1:c.9845_9858del | ENSP00000507173.1:p.Asp3282ValfsTer20 | |
| ENST00000683210.1:c.2185+19727_2185+19740del | ENSP00000506739.1:n.2185+19727_2185+19740... | |
| ENST00000683270.1:c.6445+3364_6445+3377del | ENSP00000507624.1:n.6445+3364_6445+3377de... | |
| ENST00000683367.1:c.2177-4574_2177-4561del | ENSP00000507780.1:n.2177-4574_2177-4561de... | |
| ENST00000683489.1:c.2292-4106_2292-4093del | ENSP00000508403.1:n.2292-4106_2292-4093de... | |
| ENST00000683680.1:c.2319-4106_2319-4093del | ENSP00000507223.1:n.2319-4106_2319-4093de... | |
| ENST00000684163.1:c.2204-4574_2204-4561del | ENSP00000508262.1:n.2204-4574_2204-4561de... | |
| ENST00000684196.1:n.4543-4574_4543-4561del | ||
| ENST00000684325.1:c.2186-12384_2186-12371del | ENSP00000508121.1:n.2186-12384_2186-12371... | |
| ENST00000684385.1:c.2221-4574_2221-4561del | ENSP00000507855.1:n.2221-4574_2221-4561de... | |
| ENST00000684497.1:c.2186-11414_2186-11401del | ENSP00000507057.1:n.2186-11414_2186-11401... | |
| ENST00000382292.9:c.9818_9831del MANE Select | ENSP00000371729.3:p.Asp3273ValfsTer20 | |
| ENST00000423156.2:c.2186-4574_2186-4561del | ENSP00000390925.2:n.2186-4574_2186-4561de... | |
| ENST00000455470.6:c.2432-4574_2432-4561del | ENSP00000406565.2:n.2432-4574_2432-4561de... | |
| ENST00000382292.7:c.9818_9831del | ENSP00000371729.3:p.Asp3273ValfsTer20 | |
| ENST00000382298.7:c.9818_9831del | ENSP00000371735.3:p.Asp3273ValfsTer20 | |
| ENST00000402364.1:c.7568_7581del | ENSP00000385844.1:p.Asp2523ValfsTer20 | |
| ENST00000423156.1:c.1058-4574_1058-4561del | ENSP00000390925.1:n.1058-4574_1058-4561de... | |
| ENST00000455470.5:c.2130-4574_2130-4561del | ||
| NM_001278055.1:c.9377_9390del | NP_001264984.1:p.Asp3126ValfsTer20 | |
| NM_014363.5:c.9818_9831del | NP_055178.3:p.Asp3273ValfsTer20 | |
| XM_005266338.1:c.9845_9858del | XP_005266395.1:p.Asp3282ValfsTer20 | |
| XM_011535038.1:c.9869_9882del | XP_011533340.1:p.Asp3290ValfsTer20 | |
| XM_011535039.1:c.9836_9849del | XP_011533341.1:p.Asp3279ValfsTer20 | |
| XM_005266338.2:c.9845_9858del | XP_005266395.1:p.Asp3282ValfsTer20 | |
| XM_011535039.2:c.9836_9849del | XP_011533341.1:p.Asp3279ValfsTer20 | |
| XM_017020539.1:c.9809_9822del | XP_016876028.1:p.Asp3270ValfsTer20 | |
| XM_024449337.1:c.9845_9858del | XP_024305105.1:p.Asp3282ValfsTer20 | |
| NM_014363.6:c.9818_9831del MANE Select | NP_055178.3:p.Asp3273ValfsTer20 | |
| NM_001278055.2:c.9377_9390del | NP_001264984.1:p.Asp3126ValfsTer20 |