Linked Data
ClinVar Variation Id:
554492
ClinVar RCV Id:
RCV000670135
dbSNP Id:
rs1555251818
MyVariant Identifiers:
chr13:g.23337520_23337523del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.23337521_23337524del , CM000675.2:g.23337521_23337524del | GRCh38 |
| NC_000013.10:g.23911660_23911663del , CM000675.1:g.23911660_23911663del | GRCh37 |
| NC_000013.9:g.22809660_22809663del | NCBI36 |
| NG_012342.1:g.101180_101183del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682775.1:c.2185+16262_2185+16265del | ENSP00000508399.1:n.2185+16262_2185+16265del | |
| ENST00000682944.1:c.6380_6383del | ENSP00000507173.1:p.Gly2127GlufsTer27 | |
| ENST00000683210.1:c.2185+16262_2185+16265del | ENSP00000506739.1:n.2185+16262_2185+16265del | |
| ENST00000683270.1:c.6344_6347del | ENSP00000507624.1:p.Gly2115GlufsTer27 | |
| ENST00000683367.1:c.2177-8039_2177-8036del | ENSP00000507780.1:n.2177-8039_2177-8036del | |
| ENST00000683489.1:c.2291+4062_2291+4065del | ENSP00000508403.1:n.2291+4062_2291+4065del | |
| ENST00000683680.1:c.2318+4062_2318+4065del | ENSP00000507223.1:n.2318+4062_2318+4065del | |
| ENST00000684163.1:c.2204-8039_2204-8036del | ENSP00000508262.1:n.2204-8039_2204-8036del | |
| ENST00000684196.1:n.4543-8039_4543-8036del | ||
| ENST00000684325.1:c.2186-15849_2186-15846del | ENSP00000508121.1:n.2186-15849_2186-15846del | |
| ENST00000684385.1:c.2221-8039_2221-8036del | ENSP00000507855.1:n.2221-8039_2221-8036del | |
| ENST00000684497.1:c.2186-14879_2186-14876del | ENSP00000507057.1:n.2186-14879_2186-14876del | |
| ENST00000382292.9:c.6353_6356del MANE Select | ENSP00000371729.3:p.Gly2118GlufsTer27 | |
| ENST00000423156.2:c.2186-8039_2186-8036del | ENSP00000390925.2:n.2186-8039_2186-8036del | |
| ENST00000455470.6:c.2431+3922_2431+3925del | ENSP00000406565.2:n.2431+3922_2431+3925del | |
| ENST00000382292.7:c.6353_6356del | ENSP00000371729.3:p.Gly2118GlufsTer27 | |
| ENST00000382298.7:c.6353_6356del | ENSP00000371735.3:p.Gly2118GlufsTer27 | |
| ENST00000402364.1:c.4103_4106del | ENSP00000385844.1:p.Gly1368GlufsTer27 | |
| ENST00000423156.1:c.1058-8039_1058-8036del | ENSP00000390925.1:n.1058-8039_1058-8036del | |
| ENST00000455470.5:c.2129+3922_2129+3925del | ||
| NM_001278055.1:c.5912_5915del | NP_001264984.1:p.Gly1971GlufsTer27 | |
| NM_014363.5:c.6353_6356del | NP_055178.3:p.Gly2118GlufsTer27 | |
| XM_005266338.1:c.6380_6383del | XP_005266395.1:p.Gly2127GlufsTer27 | |
| XM_011535038.1:c.6404_6407del | XP_011533340.1:p.Gly2135GlufsTer27 | |
| XM_011535039.1:c.6371_6374del | XP_011533341.1:p.Gly2124GlufsTer27 | |
| XM_005266338.2:c.6380_6383del | XP_005266395.1:p.Gly2127GlufsTer27 | |
| XM_011535039.2:c.6371_6374del | XP_011533341.1:p.Gly2124GlufsTer27 | |
| XM_017020539.1:c.6344_6347del | XP_016876028.1:p.Gly2115GlufsTer27 | |
| XM_024449337.1:c.6380_6383del | XP_024305105.1:p.Gly2127GlufsTer27 | |
| NM_014363.6:c.6353_6356del MANE Select | NP_055178.3:p.Gly2118GlufsTer27 | |
| NM_001278055.2:c.5912_5915del | NP_001264984.1:p.Gly1971GlufsTer27 |