Linked Data
ClinVar Variation Id:
550349
ClinVar RCV Id:
RCV000665073
dbSNP Id:
rs762506287
ExAC:
13:23908114 GAAC / G
gnomAD v2:
13-23908114-GAAC-G
gnomAD v4:
13-23333975-GAAC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.23333977_23333979del , CM000675.2:g.23333977_23333979del | GRCh38 |
| NC_000013.10:g.23908116_23908118del , CM000675.1:g.23908116_23908118del | GRCh37 |
| NC_000013.9:g.22806116_22806118del | NCBI36 |
| NG_012342.1:g.104725_104727del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682775.1:c.2185+19807_2185+19809del | ENSP00000508399.1:n.2185+19807_2185+19809... | |
| ENST00000682944.1:c.9925_9927del | ENSP00000507173.1:p.Val3309del | |
| ENST00000683210.1:c.2185+19807_2185+19809del | ENSP00000506739.1:n.2185+19807_2185+19809... | |
| ENST00000683270.1:c.6445+3444_6445+3446del | ENSP00000507624.1:n.6445+3444_6445+3446de... | |
| ENST00000683367.1:c.2177-4494_2177-4492del | ENSP00000507780.1:n.2177-4494_2177-4492de... | |
| ENST00000683489.1:c.2292-4026_2292-4024del | ENSP00000508403.1:n.2292-4026_2292-4024de... | |
| ENST00000683680.1:c.2319-4026_2319-4024del | ENSP00000507223.1:n.2319-4026_2319-4024de... | |
| ENST00000684163.1:c.2204-4494_2204-4492del | ENSP00000508262.1:n.2204-4494_2204-4492de... | |
| ENST00000684196.1:n.4543-4494_4543-4492del | ||
| ENST00000684325.1:c.2186-12304_2186-12302del | ENSP00000508121.1:n.2186-12304_2186-12302... | |
| ENST00000684385.1:c.2221-4494_2221-4492del | ENSP00000507855.1:n.2221-4494_2221-4492de... | |
| ENST00000684497.1:c.2186-11334_2186-11332del | ENSP00000507057.1:n.2186-11334_2186-11332... | |
| ENST00000382292.9:c.9898_9900del MANE Select | ENSP00000371729.3:p.Val3300del | |
| ENST00000423156.2:c.2186-4494_2186-4492del | ENSP00000390925.2:n.2186-4494_2186-4492de... | |
| ENST00000455470.6:c.2432-4494_2432-4492del | ENSP00000406565.2:n.2432-4494_2432-4492de... | |
| ENST00000382292.7:c.9898_9900del | ENSP00000371729.3:p.Val3300del | |
| ENST00000382298.7:c.9898_9900del | ENSP00000371735.3:p.Val3300del | |
| ENST00000402364.1:c.7648_7650del | ENSP00000385844.1:p.Val2550del | |
| ENST00000423156.1:c.1058-4494_1058-4492del | ENSP00000390925.1:n.1058-4494_1058-4492de... | |
| ENST00000455470.5:c.2130-4494_2130-4492del | ||
| NM_001278055.1:c.9457_9459del | NP_001264984.1:p.Val3153del | |
| NM_014363.5:c.9898_9900del | NP_055178.3:p.Val3300del | |
| XM_005266338.1:c.9925_9927del | XP_005266395.1:p.Val3309del | |
| XM_011535038.1:c.9949_9951del | XP_011533340.1:p.Val3317del | |
| XM_011535039.1:c.9916_9918del | XP_011533341.1:p.Val3306del | |
| XM_005266338.2:c.9925_9927del | XP_005266395.1:p.Val3309del | |
| XM_011535039.2:c.9916_9918del | XP_011533341.1:p.Val3306del | |
| XM_017020539.1:c.9889_9891del | XP_016876028.1:p.Val3297del | |
| XM_024449337.1:c.9925_9927del | XP_024305105.1:p.Val3309del | |
| NM_014363.6:c.9898_9900del MANE Select | NP_055178.3:p.Val3300del | |
| NM_001278055.2:c.9457_9459del | NP_001264984.1:p.Val3153del |