Linked Data
ClinVar Variation Id:
2629237
ClinVar RCV Id:
RCV004538985
dbSNP Id:
rs746891195
ExAC:
1:171621685 GA / G
gnomAD v2:
1-171621685-GA-G
gnomAD v3:
1-171652545-GA-G
gnomAD v4:
1-171652545-GA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.171652547del , CM000663.2:g.171652547del | GRCh38 |
| NC_000001.10:g.171621687del , CM000663.1:g.171621687del | GRCh37 |
| NC_000001.9:g.169888310del | NCBI36 |
| NG_008859.1:g.5088del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000037502.11:c.66del MANE Select | ENSP00000037502.5:p.Leu23TrpfsTer? | |
| ENST00000638471.1:c.66del | ENSP00000491206.1:p.Leu23TrpfsTer? | |
| ENST00000037502.10:c.66del | ENSP00000037502.5:p.Leu23TrpfsTer? | |
| ENST00000614688.1:c.66del | ENSP00000478680.1:p.Leu23TrpfsTer? | |
| NM_000261.1:c.66del | NP_000252.1:p.Leu23TrpfsTer? | |
| NM_000261.2:c.66del MANE Select | NP_000252.1:p.Leu23TrpfsTer? |