Linked Data
ClinVar Variation Id:
556806
dbSNP Id:
rs1553168847
gnomAD v4:
1-53196979-GGGC-G
MyVariant Identifiers:
chr1:g.53196980_53196982del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.53196980_53196982del , CM000663.2:g.53196980_53196982del | GRCh38 |
| NC_000001.10:g.53662652_53662654del , CM000663.1:g.53662652_53662654del | GRCh37 |
| NC_000001.9:g.53435240_53435242del | NCBI36 |
| NG_008035.1:g.5552_5554del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371486.4:c.37_39del MANE Select | ENSP00000360541.3:p.Gly13del | |
| ENST00000468572.2:n.122_124del | ||
| ENST00000635862.1:c.37_39del | ENSP00000490867.1:p.Gly13del | |
| ENST00000635888.1:c.37_39del | ENSP00000490042.1:p.Gly13del | |
| ENST00000636239.1:c.37_39del | ENSP00000490066.1:p.Gly13del | |
| ENST00000636867.1:c.37_39del | ENSP00000489631.1:p.Gly13del | |
| ENST00000636891.1:c.37_39del | ENSP00000490399.1:p.Gly13del | |
| ENST00000636935.1:c.37_39del | ENSP00000489757.1:p.Gly13del | |
| ENST00000637252.1:c.37_39del | ENSP00000490492.1:p.Gly13del | |
| ENST00000638135.1:c.37_39del | ENSP00000489756.1:p.Gly13del | |
| ENST00000371486.3:c.37_39del | ENSP00000360541.3:p.Gly13del | |
| ENST00000468572.1:n.122_124del | ||
| NM_000098.2:c.37_39del | NP_000089.1:p.Gly13del | |
| XM_005270484.1:c.37_39del | XP_005270541.1:p.Gly13del | |
| NM_001330589.1:c.37_39del | NP_001317518.1:p.Gly13del | |
| NM_000098.3:c.37_39del MANE Select | NP_000089.1:p.Gly13del | |
| NM_001330589.2:c.37_39del | NP_001317518.1:p.Gly13del |