Linked Data
gnomAD v4:
15-73367725-G-GGGCTGCTCGCAGGAGGCGGAGGCC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.73367732_73367755dup , CM000677.2:g.73367732_73367755dup | GRCh38 |
| NC_000015.9:g.73660073_73660096dup , CM000677.1:g.73660073_73660096dup | GRCh37 |
| NC_000015.8:g.71447126_71447149dup | NCBI36 |
| NG_009063.1:g.6516_6539dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261917.4:c.522_545dup MANE Select | ENSP00000261917.3:p.Pro182_Ser183insAlaSerAlaSerCysGluGlnPro | |
| ENST00000261917.3:c.522_545dup | ENSP00000261917.3:p.Pro182_Ser183insAlaSerAlaSerCysGluGlnPro | |
| NM_005477.2:c.522_545dup | NP_005468.1:p.Pro182_Ser183insAlaSerAlaSerCysGluGlnPro | |
| NM_005477.3:c.522_545dup MANE Select | NP_005468.1:p.Pro182_Ser183insAlaSerAlaSerCysGluGlnPro |