Linked Data
ClinVar Variation Id:
370786
ClinVar RCV Id:
RCV000412355
dbSNP Id:
rs1057516767
gnomAD v3:
13-23340809-GA-G
gnomAD v4:
13-23340809-GA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.23340810del , CM000675.2:g.23340810del | GRCh38 |
| NC_000013.10:g.23914949del , CM000675.1:g.23914949del | GRCh37 |
| NC_000013.9:g.22812949del | NCBI36 |
| NG_012342.1:g.97893del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682775.1:c.2185+12975del | ENSP00000508399.1:n.2185+12975del | |
| ENST00000682944.1:c.3093del | ENSP00000507173.1:p.Asn1034MetfsTer10 | |
| ENST00000683210.1:c.2185+12975del | ENSP00000506739.1:n.2185+12975del | |
| ENST00000683270.1:c.3057del | ENSP00000507624.1:p.Asn1022MetfsTer10 | |
| ENST00000683367.1:c.2177-11326del | ENSP00000507780.1:n.2177-11326del | |
| ENST00000683489.1:c.2291+775del | ENSP00000508403.1:n.2291+775del | |
| ENST00000683680.1:c.2318+775del | ENSP00000507223.1:n.2318+775del | |
| ENST00000684163.1:c.2203+6001del | ENSP00000508262.1:n.2203+6001del | |
| ENST00000684196.1:n.4543-11326del | ||
| ENST00000684325.1:c.2185+12975del | ENSP00000508121.1:n.2185+12975del | |
| ENST00000684385.1:c.2220+6001del | ENSP00000507855.1:n.2220+6001del | |
| ENST00000684497.1:c.2185+12975del | ENSP00000507057.1:n.2185+12975del | |
| ENST00000382292.9:c.3066del MANE Select | ENSP00000371729.3:p.Asn1025MetfsTer10 | |
| ENST00000423156.2:c.2186-11326del | ENSP00000390925.2:n.2186-11326del | |
| ENST00000455470.6:c.2431+635del | ENSP00000406565.2:n.2431+635del | |
| ENST00000382292.7:c.3066del | ENSP00000371729.3:p.Asn1025MetfsTer10 | |
| ENST00000382298.7:c.3066del | ENSP00000371735.3:p.Asn1025MetfsTer10 | |
| ENST00000402364.1:c.816del | ENSP00000385844.1:p.Asn275MetfsTer10 | |
| ENST00000423156.1:c.1058-11326del | ENSP00000390925.1:n.1058-11326del | |
| ENST00000455470.5:c.2129+635del | ||
| NM_001278055.1:c.2625del | NP_001264984.1:p.Asn878MetfsTer10 | |
| NM_014363.5:c.3066del | NP_055178.3:p.Asn1025MetfsTer10 | |
| XM_005266338.1:c.3093del | XP_005266395.1:p.Asn1034MetfsTer10 | |
| XM_011535038.1:c.3117del | XP_011533340.1:p.Asn1042MetfsTer10 | |
| XM_011535039.1:c.3084del | XP_011533341.1:p.Asn1031MetfsTer10 | |
| XM_005266338.2:c.3093del | XP_005266395.1:p.Asn1034MetfsTer10 | |
| XM_011535039.2:c.3084del | XP_011533341.1:p.Asn1031MetfsTer10 | |
| XM_017020539.1:c.3057del | XP_016876028.1:p.Asn1022MetfsTer10 | |
| XM_024449337.1:c.3093del | XP_024305105.1:p.Asn1034MetfsTer10 | |
| NM_014363.6:c.3066del MANE Select | NP_055178.3:p.Asn1025MetfsTer10 | |
| NM_001278055.2:c.2625del | NP_001264984.1:p.Asn878MetfsTer10 |