Linked Data
ClinVar Variation Id:
426063
dbSNP Id:
rs1085307444
gnomAD v2:
15-40313130-G-GT
gnomAD v4:
15-40020929-G-GT
MyVariant Identifiers:
chr15:g.40313131dup (hg19)
chr15:g.40313130_40313131insT (hg19)
chr15:g.40020930dup (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.40020930dup , CM000677.2:g.40020930dup | GRCh38 |
| NC_000015.9:g.40313131dup , CM000677.1:g.40313131dup | GRCh37 |
| NC_000015.8:g.38100423dup | NCBI36 |
| NG_034053.1:g.91807dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000263791.10:c.4205dup MANE Select | ENSP00000263791.5:p.Ser1403LysfsTer? | |
| ENST00000263791.9:c.4205dup | ENSP00000263791.5:p.Ser1403LysfsTer? | |
| ENST00000558557.1:n.1197dup | ||
| ENST00000558629.5:n.3122dup | ||
| ENST00000558743.1:n.405dup | ||
| ENST00000560855.5:c.3537dup | ||
| NM_001013703.3:c.4205dup | NP_001013725.2:p.Ser1403LysfsTer? | |
| XM_005254392.1:c.4205dup | XP_005254449.1:p.Ser1403LysfsTer? | |
| XM_011521599.1:c.4205dup | XP_011519901.1:p.Ser1403LysfsTer? | |
| XM_011521600.1:c.4034dup | XP_011519902.1:p.Ser1346LysfsTer? | |
| XM_005254392.3:c.4205dup | XP_005254449.1:p.Ser1403LysfsTer? | |
| XM_011521599.2:c.4205dup | XP_011519901.1:p.Ser1403LysfsTer? | |
| XM_011521600.3:c.4034dup | XP_011519902.1:p.Ser1346LysfsTer? | |
| XM_017022219.2:c.4034dup | XP_016877708.1:p.Ser1346LysfsTer? | |
| NM_001013703.4:c.4205dup MANE Select | NP_001013725.2:p.Ser1403LysfsTer? |