Linked Data
ClinVar Variation Id:
189042
dbSNP Id:
rs786204647
gnomAD v4:
1-53196977-CG-C
MyVariant Identifiers:
chr1:g.53662653del (hg19)
chr1:g.53662650del (hg19)
chr1:g.53196981del (hg38)
chr1:g.53196978del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.53196981del , CM000663.2:g.53196981del | GRCh38 |
| NC_000001.10:g.53662653del , CM000663.1:g.53662653del | GRCh37 |
| NC_000001.9:g.53435241del | NCBI36 |
| NG_008035.1:g.5553del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000371486.4:c.38del MANE Select | ENSP00000360541.3:p.Gly13AlafsTer? | |
| ENST00000468572.2:n.123del | ||
| ENST00000635862.1:c.38del | ENSP00000490867.1:p.Gly13AlafsTer? | |
| ENST00000635888.1:c.38del | ENSP00000490042.1:p.Gly13AlafsTer? | |
| ENST00000636239.1:c.38del | ENSP00000490066.1:p.Gly13AlafsTer? | |
| ENST00000636867.1:c.38del | ENSP00000489631.1:p.Gly13AlafsTer? | |
| ENST00000636891.1:c.38del | ENSP00000490399.1:p.Gly13AlafsTer? | |
| ENST00000636935.1:c.38del | ENSP00000489757.1:p.Gly13AlafsTer? | |
| ENST00000637252.1:c.38del | ENSP00000490492.1:p.Gly13AlafsTer? | |
| ENST00000638135.1:c.38del | ENSP00000489756.1:p.Gly13AlafsTer? | |
| ENST00000371486.3:c.38del | ENSP00000360541.3:p.Gly13AlafsTer? | |
| ENST00000468572.1:n.123del | ||
| NM_000098.2:c.38del | NP_000089.1:p.Gly13AlafsTer? | |
| XM_005270484.1:c.38del | XP_005270541.1:p.Gly13AlafsTer? | |
| NM_001330589.1:c.38del | NP_001317518.1:p.Gly13AlafsTer? | |
| NM_000098.3:c.38del MANE Select | NP_000089.1:p.Gly13AlafsTer? | |
| NM_001330589.2:c.38del | NP_001317518.1:p.Gly13AlafsTer? |