Linked Data
ClinVar Variation Id:
554128
dbSNP Id:
rs1555252136
gnomAD v4:
13-23338569-ATGG-A
MyVariant Identifiers:
chr13:g.23338570_23338572del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.23338572_23338574del , CM000675.2:g.23338572_23338574del | GRCh38 |
| NC_000013.10:g.23912711_23912713del , CM000675.1:g.23912711_23912713del | GRCh37 |
| NC_000013.9:g.22810711_22810713del | NCBI36 |
| NG_012342.1:g.100131_100133del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682775.1:c.2185+15213_2185+15215del | ENSP00000508399.1:n.2185+15213_2185+15215del | |
| ENST00000682944.1:c.5331_5333del | ENSP00000507173.1:p.His1778del | |
| ENST00000683210.1:c.2185+15213_2185+15215del | ENSP00000506739.1:n.2185+15213_2185+15215del | |
| ENST00000683270.1:c.5295_5297del | ENSP00000507624.1:p.His1766del | |
| ENST00000683367.1:c.2177-9088_2177-9086del | ENSP00000507780.1:n.2177-9088_2177-9086del | |
| ENST00000683489.1:c.2291+3013_2291+3015del | ENSP00000508403.1:n.2291+3013_2291+3015del | |
| ENST00000683680.1:c.2318+3013_2318+3015del | ENSP00000507223.1:n.2318+3013_2318+3015del | |
| ENST00000684163.1:c.2203+8239_2203+8241del | ENSP00000508262.1:n.2203+8239_2203+8241del | |
| ENST00000684196.1:n.4543-9088_4543-9086del | ||
| ENST00000684325.1:c.2185+15213_2185+15215del | ENSP00000508121.1:n.2185+15213_2185+15215del | |
| ENST00000684385.1:c.2220+8239_2220+8241del | ENSP00000507855.1:n.2220+8239_2220+8241del | |
| ENST00000684497.1:c.2185+15213_2185+15215del | ENSP00000507057.1:n.2185+15213_2185+15215del | |
| ENST00000382292.9:c.5304_5306del MANE Select | ENSP00000371729.3:p.His1769del | |
| ENST00000423156.2:c.2186-9088_2186-9086del | ENSP00000390925.2:n.2186-9088_2186-9086del | |
| ENST00000455470.6:c.2431+2873_2431+2875del | ENSP00000406565.2:n.2431+2873_2431+2875del | |
| ENST00000382292.7:c.5304_5306del | ENSP00000371729.3:p.His1769del | |
| ENST00000382298.7:c.5304_5306del | ENSP00000371735.3:p.His1769del | |
| ENST00000402364.1:c.3054_3056del | ENSP00000385844.1:p.His1019del | |
| ENST00000423156.1:c.1058-9088_1058-9086del | ENSP00000390925.1:n.1058-9088_1058-9086del | |
| ENST00000455470.5:c.2129+2873_2129+2875del | ||
| NM_001278055.1:c.4863_4865del | NP_001264984.1:p.His1622del | |
| NM_014363.5:c.5304_5306del | NP_055178.3:p.His1769del | |
| XM_005266338.1:c.5331_5333del | XP_005266395.1:p.His1778del | |
| XM_011535038.1:c.5355_5357del | XP_011533340.1:p.His1786del | |
| XM_011535039.1:c.5322_5324del | XP_011533341.1:p.His1775del | |
| XM_005266338.2:c.5331_5333del | XP_005266395.1:p.His1778del | |
| XM_011535039.2:c.5322_5324del | XP_011533341.1:p.His1775del | |
| XM_017020539.1:c.5295_5297del | XP_016876028.1:p.His1766del | |
| XM_024449337.1:c.5331_5333del | XP_024305105.1:p.His1778del | |
| NM_014363.6:c.5304_5306del MANE Select | NP_055178.3:p.His1769del | |
| NM_001278055.2:c.4863_4865del | NP_001264984.1:p.His1622del |