Linked Data
ClinVar Variation Id:
93194
dbSNP Id:
rs398123443
gnomAD v2:
5-73981198-AG-A
gnomAD v3:
5-74685373-AG-A
gnomAD v4:
5-74685373-AG-A
MyVariant Identifiers:
chr5:g.73981200del (hg19)
chr5:g.73981199del (hg19)
chr5:g.73981200delG (hg19)
chr5:g.74685375del (hg38)
chr5:g.74685374del (hg38)
PubMed:
PMID:23891399
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.74685375del , CM000667.2:g.74685375del | GRCh38 |
| NC_000005.9:g.73981200del , CM000667.1:g.73981200del | GRCh37 |
| NC_000005.8:g.74016956del | NCBI36 |
| NG_009770.1:g.5232del | |
| NG_009770.2:g.50353del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261416.12:c.115del MANE Select | ENSP00000261416.7:p.Val39TrpfsTer25 | |
| ENST00000261416.11:c.115del | ENSP00000261416.7:p.Val39TrpfsTer25 | |
| ENST00000511181.5:c.-376-3953del | ENSP00000426285.1:n.-376-3953del | |
| ENST00000513079.5:n.180del | ||
| ENST00000515528.1:n.170del | ||
| NM_000521.3:c.115del | NP_000512.1:p.Val39TrpfsTer25 | |
| NM_001292004.1:c.-376-3953del | NP_001278933.1:n.-376-3953del | |
| NM_000521.4:c.115del MANE Select | NP_000512.2:p.Val39TrpfsTer25 | |
| NM_001292004.2:c.-376-3953del | NP_001278933.1:n.-376-3953del |