Linked Data
dbSNP Id:
rs1392810949
MyVariant Identifiers:
chrX:g.154954017_154954018insTGACATTCCTCTTGTC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154954025_154954040dup , CM000685.2:g.154954025_154954040dup | GRCh38 |
| NC_000023.10:g.154182300_154182315dup , CM000685.1:g.154182300_154182315dup | GRCh37 |
| NC_000023.9:g.153835494_153835509dup | NCBI36 |
| NG_011403.1:g.73691_73706dup | |
| NG_011403.2:g.73691_73706dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360256.9:c.1762_1777dup MANE Select | ENSP00000353393.4:p.Ile593ArgfsTer12 | |
| ENST00000647125.1:c.*1638_*1653dup | ENSP00000496062.1:n.*1638_*1653dup | |
| ENST00000360256.8:c.1762_1777dup | ENSP00000353393.4:p.Ile593ArgfsTer12 | |
| NM_000132.3:c.1762_1777dup | NP_000123.1:p.Ile593ArgfsTer12 | |
| XM_011531126.1:c.1657_1672dup | XP_011529428.1:p.Ile558ArgfsTer12 | |
| NM_000132.4:c.1762_1777dup MANE Select | NP_000123.1:p.Ile593ArgfsTer12 |