Linked Data
ClinVar Variation Id:
11585
ClinVar RCV Id:
RCV000012341
dbSNP Id:
rs121912294
MyVariant Identifiers:
chrX:g.153994224_153994225delinsTA (hg19)
chrX:g.154765949_154765950delinsTA (hg38)
PubMed:
PMID:9590285
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154765949_154765950delinsTA , CM000685.2:g.154765949_154765950delinsTA | GRCh38 |
| NC_000023.10:g.153994224_153994225delinsTA , CM000685.1:g.153994224_153994225delinsTA | GRCh37 |
| NC_000023.9:g.153647418_153647419delinsTA | NCBI36 |
| NG_009780.1:g.8194_8195delinsTA , LRG_55:g.8194_8195delinsTA |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000413910.6:c.214_215delinsTA | ENSP00000400542.2:p.Leu72Tyr | |
| ENST00000426673.6:c.214_215delinsTA | ENSP00000407253.3:p.Leu72Tyr | |
| ENST00000696575.1:c.214_215delinsTA | ENSP00000512730.1:p.Leu72Tyr | |
| ENST00000696576.1:n.316_317delinsTA | ||
| ENST00000696577.1:c.214_215delinsTA | ENSP00000512731.1:p.Leu72Tyr | |
| ENST00000696578.1:c.214_215delinsTA | ENSP00000512732.1:p.Leu72Tyr | |
| ENST00000696579.1:n.316_317delinsTA | ||
| ENST00000696580.1:c.127_128delinsTA | ENSP00000512733.1:p.Leu43Tyr | |
| ENST00000696581.1:c.*188_*189delinsTA | ENSP00000512734.1:n.*188_*189delinsTA | |
| ENST00000696582.1:c.214_215delinsTA | ENSP00000512735.1:p.Leu72Tyr | |
| ENST00000696583.1:c.214_215delinsTA | ENSP00000512736.1:p.Leu72Tyr | |
| ENST00000696584.1:n.738_739delinsTA | ||
| ENST00000696585.1:n.261_262delinsTA | ||
| ENST00000696586.1:n.261_262delinsTA | ||
| ENST00000696587.1:c.214_215delinsTA | ENSP00000512737.1:p.Leu72Tyr | |
| ENST00000696588.1:c.-396_-395delinsTA | ENSP00000513251.1:n.-396_-395delinsTA | |
| ENST00000696627.1:c.214_215delinsTA | ENSP00000512764.1:p.Leu72Tyr | |
| ENST00000696628.1:c.214_215delinsTA | ENSP00000512765.1:p.Leu72Tyr | |
| ENST00000369550.10:c.214_215delinsTA MANE Select | ENSP00000358563.5:p.Leu72Tyr | |
| ENST00000369550.9:c.214_215delinsTA | ENSP00000358563.5:p.Leu72Tyr | |
| ENST00000413910.5:c.214_215delinsTA | ENSP00000400542.1:p.Leu72Tyr | |
| ENST00000437719.5:c.170_171delinsTA | ||
| ENST00000452771.5:c.172_173delinsTA | ENSP00000407325.1:p.Leu58Tyr | |
| ENST00000473552.1:n.267_268delinsTA | ||
| ENST00000620277.4:c.214_215delinsTA | ENSP00000478387.1:p.Leu72Tyr | |
| NM_001142463.2:c.214_215delinsTA | NP_001135935.1:p.Leu72Tyr | |
| NM_001288747.1:c.214_215delinsTA | NP_001275676.1:p.Leu72Tyr | |
| NM_001363.4:c.214_215delinsTA | NP_001354.1:p.Leu72Tyr | |
| NR_110021.1:n.915_916delinsTA | ||
| NR_110022.1:n.438_439delinsTA | ||
| NR_110023.1:n.438_439delinsTA | ||
| NM_001363.5:c.214_215delinsTA MANE Select | NP_001354.1:p.Leu72Tyr | |
| NM_001142463.3:c.214_215delinsTA | NP_001135935.1:p.Leu72Tyr | |
| NR_110021.2:n.793_794delinsTA | ||
| NR_110022.2:n.316_317delinsTA | ||
| NR_110023.2:n.316_317delinsTA | ||
| NM_001288747.2:c.214_215delinsTA | NP_001275676.1:p.Leu72Tyr |