Linked Data
ClinVar Variation Id:
371697
dbSNP Id:
rs754363068
ExAC:
1:53662722 A / AGC
gnomAD v2:
1-53662722-A-AGC
gnomAD v3:
1-53197050-A-AGC
gnomAD v4:
1-53197050-A-AGC
MyVariant Identifiers:
chr1:g.53662725_53662726dupGC (hg19)
chr1:g.53662722_53662723insGC (hg19)
chr1:g.53197053_53197054dupGC (hg38)
chr1:g.53197050_53197051insGC (hg38)
PubMed:
PMID:10862092
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.53197053_53197054dup , CM000663.2:g.53197053_53197054dup | GRCh38 |
| NC_000001.10:g.53662725_53662726dup , CM000663.1:g.53662725_53662726dup | GRCh37 |
| NC_000001.9:g.53435313_53435314dup | NCBI36 |
| NG_008035.1:g.5625_5626dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371486.4:c.110_111dup MANE Select | ENSP00000360541.3:p.Ser38AlafsTer? | |
| ENST00000468572.2:n.195_196dup | ||
| ENST00000635862.1:c.110_111dup | ENSP00000490867.1:p.Ser38AlafsTer? | |
| ENST00000635888.1:c.110_111dup | ENSP00000490042.1:p.Ser38AlafsTer26 | |
| ENST00000636239.1:c.110_111dup | ENSP00000490066.1:p.Ser38AlafsTer? | |
| ENST00000636867.1:c.110_111dup | ENSP00000489631.1:p.Ser38AlafsTer? | |
| ENST00000636891.1:c.110_111dup | ENSP00000490399.1:p.Ser38AlafsTer? | |
| ENST00000636935.1:c.110_111dup | ENSP00000489757.1:p.Ser38AlafsTer? | |
| ENST00000637252.1:c.110_111dup | ENSP00000490492.1:p.Ser38AlafsTer? | |
| ENST00000638135.1:c.110_111dup | ENSP00000489756.1:p.Ser38AlafsTer? | |
| ENST00000371486.3:c.110_111dup | ENSP00000360541.3:p.Ser38AlafsTer? | |
| ENST00000468572.1:n.195_196dup | ||
| NM_000098.2:c.110_111dup | NP_000089.1:p.Ser38AlafsTer? | |
| XM_005270484.1:c.110_111dup | XP_005270541.1:p.Ser38AlafsTer? | |
| NM_001330589.1:c.110_111dup | NP_001317518.1:p.Ser38AlafsTer? | |
| NM_000098.3:c.110_111dup MANE Select | NP_000089.1:p.Ser38AlafsTer? | |
| NM_001330589.2:c.110_111dup | NP_001317518.1:p.Ser38AlafsTer? |