UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Linked Data
ClinVar Variation Id:
143672
ClinVar RCV Id:
RCV000133214
dbSNP Id:
rs61749749
MyVariant Identifiers:
chrX:g.153296542_153296543insAT (hg19)
chrX:g.154031091_154031092insAT (hg38)
PubMed:
PMID:11462237
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154031091_154031092insAT , CM000685.2:g.154031091_154031092insAT | GRCh38 |
| NC_000023.10:g.153296542_153296543insAT , CM000685.1:g.153296542_153296543insAT | GRCh37 |
| NC_000023.9:g.152949736_152949737insAT | NCBI36 |
| NG_007107.2:g.111036_111037insAT | |
| NG_007107.3:g.111012_111013insAT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000303391.11:c.736_737insAT MANE Plus Clinical | ENSP00000301948.6:p.Met246AsnfsTer3 | |
| ENST00000453960.7:c.772_773insAT MANE Select | ENSP00000395535.2:p.Met258AsnfsTer3 | |
| ENST00000637917.1:c.66-156_66-155insAT | ||
| ENST00000303391.10:c.736_737insAT | ENSP00000301948.6:p.Met246AsnfsTer3 | |
| ENST00000407218.5:c.*108_*109insAT | ENSP00000384865.2:n.*108_*109insAT | |
| ENST00000453960.6:c.772_773insAT | ENSP00000395535.2:p.Met258AsnfsTer3 | |
| ENST00000619732.4:c.736_737insAT | ENSP00000480973.1:p.Met246AsnfsTer3 | |
| ENST00000622433.4:c.724_725insAT | ENSP00000484470.1:p.Met242AsnfsTer3 | |
| ENST00000628176.2:c.*108_*109insAT | ENSP00000486978.1:n.*108_*109insAT | |
| NM_001110792.1:c.772_773insAT | NP_001104262.1:p.Met258AsnfsTer3 | |
| NM_001316337.1:c.457_458insAT | NP_001303266.1:p.Met153AsnfsTer3 | |
| NM_004992.3:c.736_737insAT | NP_004983.1:p.Met246AsnfsTer3 | |
| XM_005274681.3:c.736_737insAT | XP_005274738.1:p.Met246AsnfsTer3 | |
| XM_005274682.3:c.457_458insAT | XP_005274739.1:p.Met153AsnfsTer3 | |
| XM_005274683.3:c.457_458insAT | XP_005274740.1:p.Met153AsnfsTer3 | |
| XM_006724819.2:c.67_68insAT | XP_006724882.1:p.Met23AsnfsTer3 | |
| XM_011531166.1:c.457_458insAT | XP_011529468.1:p.Met153AsnfsTer3 | |
| XM_006724819.3:c.67_68insAT | XP_006724882.1:p.Met23AsnfsTer3 | |
| XM_011531166.2:c.457_458insAT | XP_011529468.1:p.Met153AsnfsTer3 | |
| XM_024452383.1:c.457_458insAT | XP_024308151.1:p.Met153AsnfsTer3 | |
| XM_024452384.1:c.457_458insAT | XP_024308152.1:p.Met153AsnfsTer3 | |
| NM_001110792.2:c.772_773insAT MANE Select | NP_001104262.1:p.Met258AsnfsTer3 | |
| NM_001316337.2:c.457_458insAT | NP_001303266.1:p.Met153AsnfsTer3 | |
| NM_001369391.2:c.457_458insAT | NP_001356320.1:p.Met153AsnfsTer3 | |
| NM_001369392.2:c.457_458insAT | NP_001356321.1:p.Met153AsnfsTer3 | |
| NM_001369393.2:c.457_458insAT | NP_001356322.1:p.Met153AsnfsTer3 | |
| NM_001369394.1:c.457_458insAT | NP_001356323.1:p.Met153AsnfsTer3 | |
| NM_001369394.2:c.457_458insAT | NP_001356323.1:p.Met153AsnfsTer3 | |
| NM_001386137.1:c.67_68insAT | NP_001373066.1:p.Met23AsnfsTer3 | |
| NM_001386138.1:c.67_68insAT | NP_001373067.1:p.Met23AsnfsTer3 | |
| NM_001386139.1:c.67_68insAT | NP_001373068.1:p.Met23AsnfsTer3 | |
| NM_004992.4:c.736_737insAT MANE Plus Clinical | NP_004983.1:p.Met246AsnfsTer3 |