Linked Data
dbSNP Id:
rs986400929
gnomAD v2:
15-72103797-G-GCCCAGCCCTGC
gnomAD v4:
15-71811457-G-GCCCAGCCCTGC
MyVariant Identifiers:
chr15:g.72103797_72103798insCCCAGCCCTGC (hg19)
chr15:g.71811457_71811458insCCCAGCCCTGC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.71811461_71811471dup , CM000677.2:g.71811461_71811471dup | GRCh38 |
| NC_000015.9:g.72103801_72103811dup , CM000677.1:g.72103801_72103811dup | GRCh37 |
| NC_000015.8:g.69890855_69890865dup | NCBI36 |
| NG_009113.2:g.5907_5917dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000617575.5:c.119-22_119-12dup MANE Select | ENSP00000482504.1:n.119-22_119-12dup | |
| ENST00000617575.4:c.119-22_119-12dup | ENSP00000482504.1:n.119-22_119-12dup | |
| ENST00000621098.1:c.119-22_119-12dup | ENSP00000479962.1:n.119-22_119-12dup | |
| ENST00000621736.4:c.-146-22_-146-12dup | ENSP00000479254.1:n.-146-22_-146-12dup | |
| NM_014249.3:c.119-22_119-12dup | NP_055064.1:n.119-22_119-12dup | |
| NM_016346.3:c.119-22_119-12dup | NP_057430.1:n.119-22_119-12dup | |
| XM_011521146.1:c.-146-22_-146-12dup | XP_011519448.1:n.-146-22_-146-12dup | |
| NM_014249.4:c.119-22_119-12dup MANE Select | NP_055064.1:n.119-22_119-12dup | |
| NM_016346.4:c.119-22_119-12dup | NP_057430.1:n.119-22_119-12dup |