Linked Data
dbSNP Id:
rs1567274965
gnomAD v2:
16-9857088-ATAT-A
gnomAD v4:
16-9763231-ATAT-A
MyVariant Identifiers:
chr16:g.9857089_9857091del (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.9763236_9763238del , CM000678.2:g.9763236_9763238del | GRCh38 |
| NC_000016.9:g.9857093_9857095del , CM000678.1:g.9857093_9857095del | GRCh37 |
| NC_000016.8:g.9764594_9764596del | NCBI36 |
| NG_011812.1:g.424521_424523del | |
| NG_011812.2:g.424521_424523del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330684.4:c.4310_4312del MANE Select | ENSP00000332549.3:p.Asn1437del | |
| ENST00000535259.6:c.*121_*123del | ENSP00000441572.3:n.*121_*123del | |
| ENST00000636273.2:n.3560_3562del | ||
| ENST00000674742.1:c.3839_3841del | ENSP00000502200.1:p.Asn1280del | |
| ENST00000675398.1:c.*1680_*1682del | ENSP00000502752.1:n.*1680_*1682del | |
| ENST00000330684.3:c.4310_4312del | ENSP00000332549.3:p.Asn1437del | |
| ENST00000396573.6:c.4310_4312del | ENSP00000379818.2:p.Asn1437del | |
| ENST00000396575.6:c.3899_3901del | ENSP00000379820.3:p.Asn1300del | |
| ENST00000461292.3:n.3606_3608del | ||
| ENST00000535259.5:c.*121_*123del | ENSP00000441572.2:n.*121_*123del | |
| ENST00000562109.5:c.*121_*123del | ENSP00000454998.1:n.*121_*123del | |
| NM_000833.4:c.4310_4312del | NP_000824.1:p.Asn1437del | |
| NM_001134407.2:c.4310_4312del | NP_001127879.1:p.Asn1437del | |
| NM_001134408.2:c.*121_*123del | NP_001127880.1:n.*121_*123del | |
| XM_011522456.1:c.4151_4153del | XP_011520758.1:p.Asn1384del | |
| XM_011522457.1:c.4052_4054del | XP_011520759.1:p.Asn1351del | |
| XM_011522458.1:c.3839_3841del | XP_011520760.1:p.Asn1280del | |
| XM_011522459.1:c.3839_3841del | XP_011520761.1:p.Asn1280del | |
| XM_011522460.1:c.3839_3841del | XP_011520762.1:p.Asn1280del | |
| XM_011522461.1:c.*121_*123del | XP_011520763.1:n.*121_*123del | |
| XM_011522458.3:c.3839_3841del | XP_011520760.1:p.Asn1280del | |
| XM_011522461.3:c.*121_*123del | XP_011520763.1:n.*121_*123del | |
| XM_017023172.1:c.4466_4468del | XP_016878661.1:p.Asn1489del | |
| XM_017023173.1:c.*121_*123del | XP_016878662.1:n.*121_*123del | |
| NM_001134407.3:c.4310_4312del MANE Select | NP_001127879.1:p.Asn1437del | |
| NM_000833.5:c.4310_4312del | NP_000824.1:p.Asn1437del |