Linked Data
ClinVar Variation Id:
265019
dbSNP Id:
rs767359198
ExAC:
16:16263631 CAGAGGA / C
gnomAD v2:
16-16263631-CAGAGGA-C
gnomAD v3:
16-16169774-CAGAGGA-C
gnomAD v4:
16-16169774-CAGAGGA-C
MyVariant Identifiers:
chr16:g.16263632_16263637del (hg19)
chr16:g.16169776_16169781del (hg38)
chr16:g.16169775_16169780del (hg38)
PubMed:
PMID:25264593
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.16169785_16169790del , CM000678.2:g.16169785_16169790del | GRCh38 |
| NC_000016.9:g.16263642_16263647del , CM000678.1:g.16263642_16263647del | GRCh37 |
| NC_000016.8:g.16171143_16171148del | NCBI36 |
| NG_007558.2:g.58692_58697del | |
| NG_007558.3:g.58838_58843del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000622290.5:c.2861_2866del | ENSP00000483331.2:p.Phe954_Leu955del | |
| ENST00000205557.12:c.2861_2866del MANE Select | ENSP00000205557.7:p.Phe954_Leu955del | |
| ENST00000205557.11:c.2861_2866del | ENSP00000205557.7:p.Phe954_Leu955del | |
| ENST00000456970.6:c.2686_2691del | ENSP00000405002.2:n.2686_2691del | |
| ENST00000622290.4:c.*70_*75del | ENSP00000483331.1:n.*70_*75del | |
| NM_001171.5:c.2861_2866del | NP_001162.4:p.Phe954_Leu955del | |
| XM_011522479.1:c.2828_2833del | XP_011520781.1:p.Phe943_Leu944del | |
| XM_011522480.1:c.2519_2524del | XP_011520782.1:p.Phe840_Leu841del | |
| XM_011522481.1:c.2519_2524del | XP_011520783.1:p.Phe840_Leu841del | |
| XR_932836.1:n.3096_3101del | ||
| XR_932837.1:n.3097_3102del | ||
| XR_932838.1:n.3097_3102del | ||
| NM_001351800.1:c.2519_2524del | NP_001338729.1:p.Phe840_Leu841del | |
| NR_147784.1:n.2723_2728del | ||
| XM_011522479.2:c.2828_2833del | XP_011520781.1:p.Phe943_Leu944del | |
| XM_011522481.3:c.2519_2524del | XP_011520783.1:p.Phe840_Leu841del | |
| XM_017023212.1:c.2693_2698del | XP_016878701.1:p.Phe898_Leu899del | |
| XM_017023214.1:c.2861_2866del | XP_016878703.1:p.Phe954_Leu955del | |
| XM_024450261.1:c.2897_2902del | XP_024306029.1:p.Phe966_Leu967del | |
| XR_932836.2:n.3042_3047del | ||
| XR_932837.3:n.3042_3047del | ||
| XR_932838.3:n.3042_3047del | ||
| NM_001171.6:c.2861_2866del MANE Select | NP_001162.5:p.Phe954_Leu955del |