Linked Data
dbSNP Id:
rs1445162435
gnomAD v2:
15-74222064-T-TGGAGAATA
gnomAD v3:
15-73929723-T-TGGAGAATA
gnomAD v4:
15-73929723-T-TGGAGAATA
MyVariant Identifiers:
chr15:g.74222064_74222065insGGAGAATA (hg19)
chr15:g.73929723_73929724insGGAGAATA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.73929727_73929734dup , CM000677.2:g.73929727_73929734dup | GRCh38 |
| NC_000015.9:g.74222068_74222075dup , CM000677.1:g.74222068_74222075dup | GRCh37 |
| NC_000015.8:g.72009121_72009128dup | NCBI36 |
| NG_011466.1:g.8280_8287dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261921.8:c.1102+1842_1102+1849dup MANE Select | ENSP00000261921.7:n.1102+1842_1102+1849dup | |
| ENST00000261921.7:c.1102+1842_1102+1849dup | ENSP00000261921.7:n.1102+1842_1102+1849dup | |
| ENST00000566011.5:c.1102+1842_1102+1849dup | ENSP00000457827.1:n.1102+1842_1102+1849dup | |
| NM_005576.2:c.1102+1842_1102+1849dup | NP_005567.2:n.1102+1842_1102+1849dup | |
| XM_011521555.1:c.1102+1842_1102+1849dup | XP_011519857.1:n.1102+1842_1102+1849dup | |
| XR_931824.1:n.1435+1842_1435+1849dup | ||
| NM_005576.3:c.1102+1842_1102+1849dup | NP_005567.2:n.1102+1842_1102+1849dup | |
| XM_011521555.2:c.1102+1842_1102+1849dup | XP_011519857.1:n.1102+1842_1102+1849dup | |
| XR_931824.2:n.1424+1842_1424+1849dup | ||
| NM_005576.4:c.1102+1842_1102+1849dup MANE Select | NP_005567.2:n.1102+1842_1102+1849dup |