Linked Data
ClinVar Variation Id:
143459
ClinVar RCV Id:
RCV000132987
dbSNP Id:
rs267608624
MyVariant Identifiers:
chrX:g.153295959dupA (hg19)
chrX:g.153295958_153295959insA (hg19)
chrX:g.154030508dupA (hg38)
chrX:g.154030507_154030508insA (hg38)
PubMed:
PMID:15737703
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154030509dup , CM000685.2:g.154030509dup | GRCh38 |
| NC_000023.10:g.153295960dup , CM000685.1:g.153295960dup | GRCh37 |
| NC_000023.9:g.152949154dup | NCBI36 |
| NG_007107.2:g.111620dup | |
| NG_007107.3:g.111596dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000303391.11:c.1320dup MANE Plus Clinical | ENSP00000301948.6:p.Ala441CysfsTer? | |
| ENST00000453960.7:c.1356dup MANE Select | ENSP00000395535.2:p.Ala453CysfsTer? | |
| ENST00000303391.10:c.1320dup | ENSP00000301948.6:p.Ala441CysfsTer? | |
| ENST00000453960.6:c.1356dup | ENSP00000395535.2:p.Ala453CysfsTer? | |
| ENST00000619732.4:c.1320dup | ENSP00000480973.1:p.Ala441CysfsTer? | |
| ENST00000628176.2:c.*692dup | ENSP00000486978.1:n.*692dup | |
| NM_001110792.1:c.1356dup | NP_001104262.1:p.Ala453CysfsTer? | |
| NM_001316337.1:c.1041dup | NP_001303266.1:p.Ala348CysfsTer? | |
| NM_004992.3:c.1320dup | NP_004983.1:p.Ala441CysfsTer? | |
| XM_005274681.3:c.1320dup | XP_005274738.1:p.Ala441CysfsTer? | |
| XM_005274682.3:c.1041dup | XP_005274739.1:p.Ala348CysfsTer? | |
| XM_005274683.3:c.1041dup | XP_005274740.1:p.Ala348CysfsTer? | |
| XM_006724819.2:c.651dup | XP_006724882.1:p.Ala218CysfsTer? | |
| XM_011531166.1:c.1041dup | XP_011529468.1:p.Ala348CysfsTer? | |
| XM_006724819.3:c.651dup | XP_006724882.1:p.Ala218CysfsTer? | |
| XM_011531166.2:c.1041dup | XP_011529468.1:p.Ala348CysfsTer? | |
| XM_024452383.1:c.1041dup | XP_024308151.1:p.Ala348CysfsTer? | |
| XM_024452384.1:c.1041dup | XP_024308152.1:p.Ala348CysfsTer? | |
| NM_001110792.2:c.1356dup MANE Select | NP_001104262.1:p.Ala453CysfsTer? | |
| NM_001316337.2:c.1041dup | NP_001303266.1:p.Ala348CysfsTer? | |
| NM_001369391.2:c.1041dup | NP_001356320.1:p.Ala348CysfsTer? | |
| NM_001369392.2:c.1041dup | NP_001356321.1:p.Ala348CysfsTer? | |
| NM_001369393.2:c.1041dup | NP_001356322.1:p.Ala348CysfsTer? | |
| NM_001369394.1:c.1041dup | NP_001356323.1:p.Ala348CysfsTer? | |
| NM_001369394.2:c.1041dup | NP_001356323.1:p.Ala348CysfsTer? | |
| NM_001386137.1:c.651dup | NP_001373066.1:p.Ala218CysfsTer? | |
| NM_001386138.1:c.651dup | NP_001373067.1:p.Ala218CysfsTer? | |
| NM_001386139.1:c.651dup | NP_001373068.1:p.Ala218CysfsTer? | |
| NM_004992.4:c.1320dup MANE Plus Clinical | NP_004983.1:p.Ala441CysfsTer? |