Linked Data
ClinVar Variation Id:
410166
ClinVar RCV Id:
RCV002281094
dbSNP Id:
rs1060502772
gnomAD v4:
16-23635613-T-TG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.23635613_23635614insG , CM000678.2:g.23635613_23635614insG | GRCh38 |
| NC_000016.9:g.23646934_23646935insG , CM000678.1:g.23646934_23646935insG | GRCh37 |
| NC_000016.8:g.23554435_23554436insG | NCBI36 |
| NG_007406.1:g.10744_10745insC , LRG_308:g.10744_10745insC |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000561514.3:c.938_939insC | ENSP00000460666.3:p.Lys313AsnfsTer10 | |
| ENST00000565038.2:c.211+2236_211+2237insC | ENSP00000459882.2:n.211+2236_211+2237insC... | |
| ENST00000566069.6:c.932_933insC | ENSP00000459237.2:p.Lys311AsnfsTer10 | |
| ENST00000697377.2:c.938_939insC | ENSP00000513286.2:p.Lys313AsnfsTer10 | |
| ENST00000697379.2:c.938_939insC | ENSP00000513287.2:p.Lys313AsnfsTer10 | |
| ENST00000561514.2:c.47_48insC | ENSP00000460666.2:p.Lys16AsnfsTer10 | |
| ENST00000697374.1:c.47_48insC | ENSP00000513284.1:p.Lys16AsnfsTer10 | |
| ENST00000697375.1:n.2279_2280insC | ||
| ENST00000697376.1:c.47_48insC | ENSP00000513285.1:p.Lys16AsnfsTer10 | |
| ENST00000697377.1:c.47_48insC | ENSP00000513286.1:p.Lys16AsnfsTer10 | |
| ENST00000697378.1:n.1452_1453insC | ||
| ENST00000697379.1:c.47_48insC | ENSP00000513287.1:p.Lys16AsnfsTer10 | |
| ENST00000697382.1:c.47_48insC | ENSP00000513288.1:p.Lys16AsnfsTer10 | |
| ENST00000697383.1:c.48+5496_48+5497insC | ENSP00000513289.1:n.48+5496_48+5497insC | |
| ENST00000697384.1:n.1086_1087insC | ||
| ENST00000261584.9:c.932_933insC MANE Select | ENSP00000261584.4:p.Lys311AsnfsTer10 | |
| ENST00000261584.8:c.932_933insC | ENSP00000261584.4:p.Lys311AsnfsTer10 | |
| ENST00000565038.1:c.86+2236_86+2237insC | ||
| ENST00000568219.5:c.47_48insC | ENSP00000454703.2:p.Lys16AsnfsTer10 | |
| NM_024675.3:c.932_933insC , LRG_308t1:c.932_933insC | NP_078951.2:p.Lys311AsnfsTer10 | |
| XM_011545946.1:c.938_939insC | XP_011544248.1:p.Lys313AsnfsTer10 | |
| XM_011545947.1:c.938_939insC | XP_011544249.1:p.Lys313AsnfsTer10 | |
| XM_011545948.1:c.47_48insC | XP_011544250.1:p.Lys16AsnfsTer10 | |
| XR_950851.1:n.1728_1729insC | ||
| XM_011545946.2:c.938_939insC | XP_011544248.1:p.Lys313AsnfsTer10 | |
| XM_011545947.2:c.938_939insC | XP_011544249.1:p.Lys313AsnfsTer10 | |
| XM_011545948.2:c.47_48insC | XP_011544250.1:p.Lys16AsnfsTer10 | |
| XM_017023671.1:c.938_939insC | XP_016879160.1:p.Lys313AsnfsTer10 | |
| XM_017023672.2:c.932_933insC | XP_016879161.1:p.Lys311AsnfsTer10 | |
| XM_017023673.2:c.932_933insC | XP_016879162.1:p.Lys311AsnfsTer10 | |
| NM_024675.4:c.932_933insC MANE Select | NP_078951.2:p.Lys311AsnfsTer10 |