Linked Data
ClinVar Variation Id:
210657
ClinVar RCV Id:
RCV000194484
dbSNP Id:
rs777893196
ExAC:
13:25480768 GAGAA / G
gnomAD v4:
13-24906630-GAGAA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.24906634_24906637del , CM000675.2:g.24906634_24906637del | GRCh38 |
| NC_000013.10:g.25480772_25480775del , CM000675.1:g.25480772_25480775del | GRCh37 |
| NC_000013.9:g.24378772_24378775del | NCBI36 |
| NG_009165.2:g.21314_21317del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381884.9:c.1404_1407del MANE Select | ENSP00000371308.4:p.Ser469ArgfsTer4 | |
| ENST00000545981.6:c.1404_1407del | ENSP00000441090.2:p.Ser469ArgfsTer4 | |
| ENST00000381884.8:c.1404_1407del | ENSP00000371308.4:p.Ser469ArgfsTer4 | |
| ENST00000545981.5:c.1404_1407del | ENSP00000441090.2:p.Ser469ArgfsTer4 | |
| ENST00000616936.4:c.1404_1407del | ENSP00000477511.1:p.Ser469ArgfsTer4 | |
| NM_018451.4:c.1404_1407del | NP_060921.3:p.Ser469ArgfsTer4 | |
| NR_047594.1:n.1599_1602del | ||
| NR_047595.1:n.1599_1602del | ||
| XM_011535149.1:c.1404_1407del | XP_011533451.1:p.Ser469ArgfsTer4 | |
| XM_011535150.1:c.1404_1407del | XP_011533452.1:p.Ser469ArgfsTer4 | |
| XM_011535151.1:c.1404_1407del | XP_011533453.1:p.Ser469ArgfsTer4 | |
| XR_941627.1:n.1599_1602del | ||
| XR_941628.1:n.1599_1602del | ||
| XM_011535149.2:c.1404_1407del | XP_011533451.1:p.Ser469ArgfsTer4 | |
| XM_011535150.2:c.1404_1407del | XP_011533452.1:p.Ser469ArgfsTer4 | |
| XM_017020673.1:c.1404_1407del | XP_016876162.1:p.Ser469ArgfsTer4 | |
| NM_018451.5:c.1404_1407del MANE Select | NP_060921.3:p.Ser469ArgfsTer4 | |
| NR_047594.2:n.1571_1574del | ||
| NR_047595.2:n.1571_1574del |