Linked Data
ClinVar Variation Id:
2097043
ClinVar RCV Id:
RCV003016489
dbSNP Id:
rs1236699656
gnomAD v2:
13-23905301-GCTAA-G
gnomAD v4:
13-23331162-GCTAA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.23331166_23331169del , CM000675.2:g.23331166_23331169del | GRCh38 |
| NC_000013.10:g.23905305_23905308del , CM000675.1:g.23905305_23905308del | GRCh37 |
| NC_000013.9:g.22803305_22803308del | NCBI36 |
| NG_012342.1:g.107537_107540del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682775.1:c.2186-19051_2186-19048del | ENSP00000508399.1:n.2186-19051_2186-19048del | |
| ENST00000682944.1:c.12737_12740del | ENSP00000507173.1:p.Val4246AlafsTer? | |
| ENST00000683210.1:c.2185+22619_2185+22622del | ENSP00000506739.1:n.2185+22619_2185+22622del | |
| ENST00000683270.1:c.6446-1682_6446-1679del | ENSP00000507624.1:n.6446-1682_6446-1679del | |
| ENST00000683367.1:c.2177-1682_2177-1679del | ENSP00000507780.1:n.2177-1682_2177-1679del | |
| ENST00000683489.1:c.2292-1214_2292-1211del | ENSP00000508403.1:n.2292-1214_2292-1211del | |
| ENST00000683680.1:c.2319-1214_2319-1211del | ENSP00000507223.1:n.2319-1214_2319-1211del | |
| ENST00000684163.1:c.2204-1682_2204-1679del | ENSP00000508262.1:n.2204-1682_2204-1679del | |
| ENST00000684196.1:n.4543-1682_4543-1679del | ||
| ENST00000684325.1:c.2186-9492_2186-9489del | ENSP00000508121.1:n.2186-9492_2186-9489del | |
| ENST00000684385.1:c.2221-1682_2221-1679del | ENSP00000507855.1:n.2221-1682_2221-1679del | |
| ENST00000684497.1:c.2186-8522_2186-8519del | ENSP00000507057.1:n.2186-8522_2186-8519del | |
| ENST00000382292.9:c.12710_12713del MANE Select | ENSP00000371729.3:p.Val4237AlafsTer? | |
| ENST00000423156.2:c.2186-1682_2186-1679del | ENSP00000390925.2:n.2186-1682_2186-1679del | |
| ENST00000455470.6:c.2432-1682_2432-1679del | ENSP00000406565.2:n.2432-1682_2432-1679del | |
| ENST00000382292.7:c.12710_12713del | ENSP00000371729.3:p.Val4237AlafsTer? | |
| ENST00000382298.7:c.12710_12713del | ENSP00000371735.3:p.Val4237AlafsTer? | |
| ENST00000402364.1:c.10460_10463del | ENSP00000385844.1:p.Val3487AlafsTer? | |
| ENST00000423156.1:c.1058-1682_1058-1679del | ENSP00000390925.1:n.1058-1682_1058-1679del | |
| ENST00000455470.5:c.2130-1682_2130-1679del | ||
| NM_001278055.1:c.12269_12272del | NP_001264984.1:p.Val4090AlafsTer? | |
| NM_014363.5:c.12710_12713del | NP_055178.3:p.Val4237AlafsTer? | |
| XM_005266338.1:c.12737_12740del | XP_005266395.1:p.Val4246AlafsTer? | |
| XM_011535038.1:c.12761_12764del | XP_011533340.1:p.Val4254AlafsTer? | |
| XM_011535039.1:c.12728_12731del | XP_011533341.1:p.Val4243AlafsTer? | |
| XM_005266338.2:c.12737_12740del | XP_005266395.1:p.Val4246AlafsTer? | |
| XM_011535039.2:c.12728_12731del | XP_011533341.1:p.Val4243AlafsTer? | |
| XM_017020539.1:c.12701_12704del | XP_016876028.1:p.Val4234AlafsTer? | |
| XM_024449337.1:c.12737_12740del | XP_024305105.1:p.Val4246AlafsTer? | |
| NM_014363.6:c.12710_12713del MANE Select | NP_055178.3:p.Val4237AlafsTer? | |
| NM_001278055.2:c.12269_12272del | NP_001264984.1:p.Val4090AlafsTer? |