Linked Data
dbSNP Id:
rs750787511
gnomAD v2:
15-89871987-G-GC
gnomAD v4:
15-89328756-G-GC
COSMIC:
COSM6039872
MyVariant Identifiers:
chr15:g.89871988_89871989insC (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89328762dup , CM000677.2:g.89328762dup | GRCh38 |
| NC_000015.9:g.89871993dup , CM000677.1:g.89871993dup | GRCh37 |
| NC_000015.8:g.87672997dup | NCBI36 |
| NG_008218.1:g.11039dup | |
| NG_008218.2:g.11039dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000636937.2:c.1098dup | ENSP00000516154.1:p.Pro367AlafsTer21 | |
| ENST00000268124.11:c.1098dup MANE Select | ENSP00000268124.5:p.Pro367AlafsTer21 | |
| ENST00000530292.3:c.699dup | ENSP00000432885.2:p.Pro234AlafsTer21 | |
| ENST00000635986.2:c.1098dup | ENSP00000490653.2:p.Pro367AlafsTer21 | |
| ENST00000636774.1:c.1098dup | ENSP00000489799.1:p.Pro367AlafsTer21 | |
| ENST00000637264.1:c.170dup | ||
| ENST00000666746.1:c.755dup | ||
| ENST00000672071.1:n.1296dup | ||
| ENST00000672923.2:n.95dup | ||
| ENST00000268124.9:c.1098dup | ENSP00000268124.5:p.Pro367AlafsTer21 | |
| ENST00000442287.6:c.1098dup | ENSP00000399851.2:p.Pro367AlafsTer21 | |
| ENST00000631044.2:c.*481dup | ENSP00000486730.1:n.*481dup | |
| NM_001126131.1:c.1098dup | NP_001119603.1:p.Pro367AlafsTer21 | |
| NM_002693.2:c.1098dup | NP_002684.1:p.Pro367AlafsTer21 | |
| NM_001126131.2:c.1098dup | NP_001119603.1:p.Pro367AlafsTer21 | |
| NM_002693.3:c.1098dup MANE Select | NP_002684.1:p.Pro367AlafsTer21 |