Linked Data
ClinVar Variation Id:
143682
ClinVar RCV Id:
RCV000133224
dbSNP Id:
rs267608521
MyVariant Identifiers:
chrX:g.153296529delinsAAGCTTCCTGA (hg19)
chrX:g.154031078delinsAAGCTTCCTGA (hg38)
PubMed:
PMID:11106359
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154031078delinsAAGCTTCCTGA , CM000685.2:g.154031078delinsAAGCTTCCTGA | GRCh38 |
| NC_000023.10:g.153296529delinsAAGCTTCCTGA , CM000685.1:g.153296529delinsAAGCTTCCTGA | GRCh37 |
| NC_000023.9:g.152949723delinsAAGCTTCCTGA | NCBI36 |
| NG_007107.2:g.111050delinsTCAGGAAGCTT | |
| NG_007107.3:g.111026delinsTCAGGAAGCTT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000303391.11:c.750delinsTCAGGAAGCTT MANE Plus Clinical | ENSP00000301948.6:p.Pro251GlnfsTer11 | |
| ENST00000453960.7:c.786delinsTCAGGAAGCTT MANE Select | ENSP00000395535.2:p.Pro263GlnfsTer11 | |
| ENST00000637917.1:c.66-142delinsTCAGGAAGCTT | ||
| ENST00000303391.10:c.750delinsTCAGGAAGCTT | ENSP00000301948.6:p.Pro251GlnfsTer11 | |
| ENST00000407218.5:c.*122delinsTCAGGAAGCTT | ENSP00000384865.2:n.*122delinsTCAGGAAGCTT... | |
| ENST00000453960.6:c.786delinsTCAGGAAGCTT | ENSP00000395535.2:p.Pro263GlnfsTer11 | |
| ENST00000619732.4:c.750delinsTCAGGAAGCTT | ENSP00000480973.1:p.Pro251GlnfsTer11 | |
| ENST00000622433.4:c.738delinsTCAGGAAGCTT | ENSP00000484470.1:p.Pro247GlnfsTer11 | |
| ENST00000628176.2:c.*122delinsTCAGGAAGCTT | ENSP00000486978.1:n.*122delinsTCAGGAAGCTT... | |
| NM_001110792.1:c.786delinsTCAGGAAGCTT | NP_001104262.1:p.Pro263GlnfsTer11 | |
| NM_001316337.1:c.471delinsTCAGGAAGCTT | NP_001303266.1:p.Pro158GlnfsTer11 | |
| NM_004992.3:c.750delinsTCAGGAAGCTT | NP_004983.1:p.Pro251GlnfsTer11 | |
| XM_005274681.3:c.750delinsTCAGGAAGCTT | XP_005274738.1:p.Pro251GlnfsTer11 | |
| XM_005274682.3:c.471delinsTCAGGAAGCTT | XP_005274739.1:p.Pro158GlnfsTer11 | |
| XM_005274683.3:c.471delinsTCAGGAAGCTT | XP_005274740.1:p.Pro158GlnfsTer11 | |
| XM_006724819.2:c.81delinsTCAGGAAGCTT | XP_006724882.1:p.Pro28GlnfsTer11 | |
| XM_011531166.1:c.471delinsTCAGGAAGCTT | XP_011529468.1:p.Pro158GlnfsTer11 | |
| XM_006724819.3:c.81delinsTCAGGAAGCTT | XP_006724882.1:p.Pro28GlnfsTer11 | |
| XM_011531166.2:c.471delinsTCAGGAAGCTT | XP_011529468.1:p.Pro158GlnfsTer11 | |
| XM_024452383.1:c.471delinsTCAGGAAGCTT | XP_024308151.1:p.Pro158GlnfsTer11 | |
| XM_024452384.1:c.471delinsTCAGGAAGCTT | XP_024308152.1:p.Pro158GlnfsTer11 | |
| NM_001110792.2:c.786delinsTCAGGAAGCTT MANE Select | NP_001104262.1:p.Pro263GlnfsTer11 | |
| NM_001316337.2:c.471delinsTCAGGAAGCTT | NP_001303266.1:p.Pro158GlnfsTer11 | |
| NM_001369391.2:c.471delinsTCAGGAAGCTT | NP_001356320.1:p.Pro158GlnfsTer11 | |
| NM_001369392.2:c.471delinsTCAGGAAGCTT | NP_001356321.1:p.Pro158GlnfsTer11 | |
| NM_001369393.2:c.471delinsTCAGGAAGCTT | NP_001356322.1:p.Pro158GlnfsTer11 | |
| NM_001369394.1:c.471delinsTCAGGAAGCTT | NP_001356323.1:p.Pro158GlnfsTer11 | |
| NM_001369394.2:c.471delinsTCAGGAAGCTT | NP_001356323.1:p.Pro158GlnfsTer11 | |
| NM_001386137.1:c.81delinsTCAGGAAGCTT | NP_001373066.1:p.Pro28GlnfsTer11 | |
| NM_001386138.1:c.81delinsTCAGGAAGCTT | NP_001373067.1:p.Pro28GlnfsTer11 | |
| NM_001386139.1:c.81delinsTCAGGAAGCTT | NP_001373068.1:p.Pro28GlnfsTer11 | |
| NM_004992.4:c.750delinsTCAGGAAGCTT MANE Plus Clinical | NP_004983.1:p.Pro251GlnfsTer11 |