Linked Data
dbSNP Id:
rs1347393118
gnomAD v2:
10-64291353-T-TAAA
gnomAD v3:
10-62531594-T-TAAA
gnomAD v4:
10-62531594-T-TAAA
MyVariant Identifiers:
chr10:g.64291353_64291354insAAA (hg19)
chr10:g.62531594_62531595insAAA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.62531594_62531595insAAA , CM000672.2:g.62531594_62531595insAAA | GRCh38 |
| NC_000010.10:g.64291353_64291354insAAA , CM000672.1:g.64291353_64291354insAAA | GRCh37 |
| NC_000010.9:g.63961359_63961360insAAA | NCBI36 |
| NG_021209.1:g.162438_162439insAAA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647733.1:c.981+71797_981+71798insAAA | ENSP00000502188.1:n.981+71797_981+71798insAAA | |
| ENST00000395251.5:c.-185+10997_-185+10998insAAA | ENSP00000378672.1:n.-185+10997_-185+10998insAAA | |
| ENST00000410046.7:c.981+71797_981+71798insAAA | ENSP00000387091.3:n.981+71797_981+71798insAAA | |
| NM_199451.2:c.981+71797_981+71798insAAA | NP_955523.1:n.981+71797_981+71798insAAA | |
| NM_199452.3:c.-185+10997_-185+10998insAAA | NP_955524.3:n.-185+10997_-185+10998insAAA | |
| XM_017015937.2:c.982-12615_982-12614insAAA | XP_016871426.1:n.982-12615_982-12614insAAA | |
| NM_199451.3:c.981+71797_981+71798insAAA | NP_955523.1:n.981+71797_981+71798insAAA |