Linked Data
ClinVar Variation Id:
60494
ClinVar RCV Id:
RCV000054400
dbSNP Id:
rs786200942
gnomAD v3:
1-1232684-GTGCTGGCCA-G
gnomAD v4:
1-1232684-GTGCTGGCCA-G
MyVariant Identifiers:
chr1:g.1168073_1168081del (hg19)
chr1:g.1168065_1168073del (hg19)
chr1:g.1232693_1232701del (hg38)
chr1:g.1232685_1232693del (hg38)
PubMed:
PMID:23664117
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.1232693_1232701del , CM000663.2:g.1232693_1232701del | GRCh38 |
| NC_000001.10:g.1168073_1168081del , CM000663.1:g.1168073_1168081del | GRCh37 |
| NC_000001.9:g.1157936_1157944del | NCBI36 |
| NG_030007.1:g.4375_4383del | |
| NG_033265.1:g.5445_5453del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379198.5:c.415_423del MANE Select | ENSP00000368496.2:p.Met139_Ala141del | |
| ENST00000379198.3:c.415_423del | ENSP00000368496.2:p.Met139_Ala141del | |
| NM_080605.3:c.415_423del | NP_542172.2:p.Met139_Ala141del | |
| NM_080605.4:c.415_423del MANE Select | NP_542172.2:p.Met139_Ala141del |