Linked Data
dbSNP Id:
rs775956940
ExAC:
15:72103785 A / AGCCCT
gnomAD v2:
15-72103785-A-AGCCCT
gnomAD v3:
15-71811445-A-AGCCCT
gnomAD v4:
15-71811445-A-AGCCCT
MyVariant Identifiers:
chr15:g.72103785_72103786insGCCCT (hg19)
chr15:g.71811445_71811446insGCCCT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.71811452_71811456dup , CM000677.2:g.71811452_71811456dup | GRCh38 |
| NC_000015.9:g.72103792_72103796dup , CM000677.1:g.72103792_72103796dup | GRCh37 |
| NC_000015.8:g.69890846_69890850dup | NCBI36 |
| NG_009113.2:g.5898_5902dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000617575.5:c.119-31_119-27dup MANE Select | ENSP00000482504.1:n.119-31_119-27dup | |
| ENST00000617575.4:c.119-31_119-27dup | ENSP00000482504.1:n.119-31_119-27dup | |
| ENST00000621098.1:c.119-31_119-27dup | ENSP00000479962.1:n.119-31_119-27dup | |
| ENST00000621736.4:c.-146-31_-146-27dup | ENSP00000479254.1:n.-146-31_-146-27dup | |
| NM_014249.3:c.119-31_119-27dup | NP_055064.1:n.119-31_119-27dup | |
| NM_016346.3:c.119-31_119-27dup | NP_057430.1:n.119-31_119-27dup | |
| XM_011521146.1:c.-146-31_-146-27dup | XP_011519448.1:n.-146-31_-146-27dup | |
| NM_014249.4:c.119-31_119-27dup MANE Select | NP_055064.1:n.119-31_119-27dup | |
| NM_016346.4:c.119-31_119-27dup | NP_057430.1:n.119-31_119-27dup |