Linked Data
ClinVar Variation Id:
419587
ClinVar RCV Id:
RCV000486933
dbSNP Id:
rs1556468363
MyVariant Identifiers:
chrX:g.37655322_37655325dupACTT (hg19)
chrX:g.37796069_37796072dupACTT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.37796069_37796072dup , CM000685.2:g.37796069_37796072dup | GRCh38 |
| NC_000023.10:g.37655322_37655325dup , CM000685.1:g.37655322_37655325dup | GRCh37 |
| NC_000023.9:g.37540262_37540265dup | NCBI36 |
| NG_009065.1:g.21049_21052dup , LRG_53:g.21049_21052dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696170.1:c.*111_*114dup | ENSP00000512461.1:n.*111_*114dup | |
| ENST00000696171.1:c.506_509dup | ENSP00000512462.1:p.Phe170LeufsTer3 | |
| ENST00000696172.1:c.338-2886_338-2883dup | ENSP00000512463.1:n.338-2886_338-2883dup | |
| ENST00000378588.5:c.602_605dup MANE Select | ENSP00000367851.4:p.Phe202LeufsTer3 | |
| ENST00000378588.4:c.602_605dup | ENSP00000367851.4:p.Phe202LeufsTer3 | |
| ENST00000465127.1:c.171+370069_171+370072dup | ENSP00000417050.1:n.171+370069_171+370072dup | |
| NM_000397.3:c.602_605dup , LRG_53t1:c.602_605dup | NP_000388.2:p.Phe202LeufsTer3 | |
| XM_011543890.1:c.296_299dup | XP_011542192.1:p.Phe100LeufsTer3 | |
| NM_000397.4:c.602_605dup MANE Select | NP_000388.2:p.Phe202LeufsTer3 |