Linked Data
dbSNP Id:
rs955147301
gnomAD v2:
13-110857636-T-TA
gnomAD v4:
13-110205289-T-TA
MyVariant Identifiers:
chr13:g.110857636_110857637insA (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.110205292dup , CM000675.2:g.110205292dup | GRCh38 |
| NC_000013.10:g.110857639dup , CM000675.1:g.110857639dup | GRCh37 |
| NC_000013.9:g.109655640dup | NCBI36 |
| NG_011544.2:g.106860dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000375820.10:c.957+63dup MANE Select | ENSP00000364979.4:n.957+63dup | |
| ENST00000543140.6:c.957+63dup | ENSP00000443348.1:n.957+63dup | |
| ENST00000647632.1:n.653dup | ||
| ENST00000647797.1:c.836+63dup | ||
| ENST00000649738.1:n.1087+63dup | ||
| ENST00000375820.8:c.957+63dup | ENSP00000364979.4:n.957+63dup | |
| ENST00000543140.5:c.957+63dup | ENSP00000443348.1:n.957+63dup | |
| NM_001303110.1:c.957+63dup | NP_001290039.1:n.957+63dup | |
| NM_001845.5:c.957+63dup | NP_001836.3:n.957+63dup | |
| XM_011521048.1:c.765+63dup | XP_011519350.1:n.765+63dup | |
| XM_011521048.2:c.765+63dup | XP_011519350.1:n.765+63dup | |
| NM_001845.6:c.957+63dup MANE Select | NP_001836.3:n.957+63dup | |
| NM_001303110.2:c.957+63dup | NP_001290039.1:n.957+63dup |