Linked Data
ClinVar Variation Id:
265476
ClinVar RCV Id:
RCV000256154
dbSNP Id:
rs760831749
ExAC:
1:152280093 CTG / C
gnomAD v2:
1-152280093-CTG-C
gnomAD v3:
1-152307617-CTG-C
gnomAD v4:
1-152307617-CTG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.152307619_152307620del , CM000663.2:g.152307619_152307620del | GRCh38 |
| NC_000001.10:g.152280095_152280096del , CM000663.1:g.152280095_152280096del | GRCh37 |
| NC_000001.9:g.150546719_150546720del | NCBI36 |
| NG_016190.1:g.22585_22586del , LRG_1028:g.22585_22586del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000368799.2:c.7267_7268del MANE Select | ENSP00000357789.1:p.Gln2423ValfsTer2 | |
| ENST00000368799.1:c.7267_7268del | ENSP00000357789.1:p.Gln2423ValfsTer2 | |
| NM_002016.1:c.7267_7268del , LRG_1028t1:c.7267_7268del | NP_002007.1:p.Gln2423ValfsTer2 | |
| XM_011509329.1:c.7267_7268del | XP_011507631.1:p.Gln2423ValfsTer2 | |
| NM_002016.2:c.7267_7268del MANE Select | NP_002007.1:p.Gln2423ValfsTer2 |