Linked Data
ClinVar Variation Id:
351406
dbSNP Id:
rs34917282
gnomAD v2:
5-14706024-GT-G
gnomAD v3:
5-14705915-GT-G
gnomAD v4:
5-14705915-GT-G
COSMIC:
COSN20101015
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.14705917del , CM000667.2:g.14705917del | GRCh38 |
| NC_000005.9:g.14706026del , CM000667.1:g.14706026del | GRCh37 |
| NC_000005.8:g.14759026del | NCBI36 |
| NG_008273.1:g.170863del | |
| NG_008273.2:g.170870del | |
| NG_051625.1:g.50124del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000284268.8:c.*5281del (ANKH) MANE Select | ENSP00000284268.6:n.*5281del | |
| ENST00000284268.6:c.*5281del (ANKH) | ENSP00000284268.6:n.*5281del | |
| NM_054027.4:c.*5281del (ANKH) | NP_473368.1:n.*5281del | |
| XM_011514151.1:c.*47-6805del (OTULIN) | XP_011512453.1:n.*47-6805del | |
| XM_011514152.1:c.*47-3021del (OTULIN) | XP_011512454.1:n.*47-3021del | |
| NM_054027.5:c.*5281del (ANKH) | NP_473368.1:n.*5281del | |
| XM_011514151.2:c.*47-6805del (OTULIN) | XP_011512453.1:n.*47-6805del | |
| XM_011514152.2:c.*47-3021del (OTULIN) | XP_011512454.1:n.*47-3021del | |
| NM_054027.6:c.*5281del (ANKH) MANE Select | NP_473368.1:n.*5281del |