Linked Data
ClinVar Variation Id:
374904
ClinVar RCV Id:
RCV000415541
dbSNP Id:
rs1057519626
PubMed:
PMID:27843126
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.10762941_10762951del , CM000680.2:g.10762941_10762951del | GRCh38 |
| NC_000018.9:g.10762939_10762949del , CM000680.1:g.10762939_10762949del | GRCh37 |
| NC_000018.8:g.10752939_10752949del | NCBI36 |
| NG_034005.1:g.390813_390823del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000383408.7:c.3095_3105del | ENSP00000372900.4:p.Pro1032LeufsTer3 | |
| ENST00000686869.1:n.3152_3162del | ||
| ENST00000674853.1:c.3095_3105del MANE Select | ENSP00000501957.1:p.Pro1032LeufsTer3 | |
| ENST00000302079.10:c.3020_3030del | ENSP00000303316.6:p.Pro1007LeufsTer3 | |
| ENST00000383408.6:c.2873_2883del | ENSP00000372900.3:p.Pro958LeufsTer3 | |
| ENST00000503781.7:c.3020_3030del | ENSP00000421377.3:p.Pro1007LeufsTer3 | |
| ENST00000580640.5:c.3095_3105del | ENSP00000463094.1:p.Pro1032LeufsTer3 | |
| ENST00000582913.5:c.3062_3072del | ENSP00000462115.1:p.Pro1021LeufsTer3 | |
| NM_022068.3:c.3020_3030del | NP_071351.2:p.Pro1007LeufsTer3 | |
| XM_011525723.1:c.3152_3162del | XP_011524025.1:p.Pro1051LeufsTer3 | |
| XM_011525724.1:c.3095_3105del | XP_011524026.1:p.Pro1032LeufsTer3 | |
| XM_011525725.1:c.3062_3072del | XP_011524027.1:p.Pro1021LeufsTer3 | |
| XM_011525726.1:c.3152_3162del | XP_011524028.1:p.Pro1051LeufsTer3 | |
| XM_011525727.1:c.3152_3162del | XP_011524029.1:p.Pro1051LeufsTer3 | |
| XM_011525723.3:c.3152_3162del | XP_011524025.1:p.Pro1051LeufsTer3 | |
| XM_011525724.3:c.3095_3105del | XP_011524026.1:p.Pro1032LeufsTer3 | |
| XM_011525725.3:c.3062_3072del | XP_011524027.1:p.Pro1021LeufsTer3 | |
| XM_011525726.3:c.3152_3162del | XP_011524028.1:p.Pro1051LeufsTer3 | |
| XM_017025918.2:c.3113_3123del | XP_016881407.1:p.Pro1038LeufsTer3 | |
| XR_001753259.2:n.4149_4159del | ||
| NM_001378183.1:c.3095_3105del MANE Select | NP_001365112.1:p.Pro1032LeufsTer3 | |
| NM_022068.4:c.3020_3030del | NP_071351.2:p.Pro1007LeufsTer3 |