Linked Data
gnomAD v4:
10-87727430-A-AAAGAGGAACGCTGTTC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87727431_87727446dup , CM000672.2:g.87727431_87727446dup | GRCh38 |
| NC_000010.10:g.89487188_89487203dup , CM000672.1:g.89487188_89487203dup | GRCh37 |
| NC_000010.9:g.89477168_89477183dup | NCBI36 |
| NG_012150.1:g.72713_72728dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000456849.2:c.1028_1043dup MANE Select | ENSP00000406157.1:p.Val350GlyfsTer? | |
| ENST00000361175.8:c.1013_1028dup | ENSP00000354436.4:p.Val345GlyfsTer? | |
| ENST00000456849.1:c.1028_1043dup | ENSP00000406157.1:p.Val350GlyfsTer? | |
| NM_001015880.1:c.1028_1043dup | NP_001015880.1:p.Val350GlyfsTer? | |
| NM_004670.3:c.1013_1028dup | NP_004661.2:p.Val345GlyfsTer? | |
| NM_001015880.2:c.1028_1043dup MANE Select | NP_001015880.1:p.Val350GlyfsTer? | |
| NM_004670.4:c.1013_1028dup | NP_004661.2:p.Val345GlyfsTer? |