Linked Data
ClinVar Variation Id:
420723
ClinVar RCV Id:
RCV000487309
dbSNP Id:
rs56243326
ExAC:
X:48761975 CCCTT / C
gnomAD v2:
X-48761975-CCCTT-C
gnomAD v3:
X-48904698-CCCTT-C
gnomAD v4:
X-48904698-CCCTT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.48904699_48904702del , CM000685.2:g.48904699_48904702del | GRCh38 |
| NC_000023.10:g.48761976_48761979del , CM000685.1:g.48761976_48761979del | GRCh37 |
| NC_000023.9:g.48646920_48646923del | NCBI36 |
| NG_015967.1:g.11782_11785del | |
| NG_034300.1:g.12257_12260del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000247138.11:c.1163+44_1163+47del MANE Select | ENSP00000247138.5:n.1163+44_1163+47del | |
| ENST00000247138.10:c.1163+44_1163+47del | ENSP00000247138.5:n.1163+44_1163+47del | |
| ENST00000376515.8:c.545_548del | ENSP00000365698.3:p.Gln182ArgfsTer? | |
| ENST00000376521.6:c.*25_*28del | ENSP00000365704.1:n.*25_*28del | |
| ENST00000376529.8:c.573+44_573+47del | ENSP00000365712.3:n.573+44_573+47del | |
| ENST00000413561.7:c.769_772del | ||
| ENST00000445167.7:c.617_620del | ENSP00000402726.2:p.Gln206ArgfsTer? | |
| ENST00000452555.7:c.*25_*28del | ENSP00000416002.2:n.*25_*28del | |
| ENST00000616181.5:c.*25_*28del | ENSP00000478617.1:n.*25_*28del | |
| ENST00000635285.1:c.*25_*28del | ENSP00000489484.1:n.*25_*28del | |
| ENST00000635460.1:c.425-1237_425-1234del | ||
| ENST00000635589.1:c.*25_*28del | ENSP00000489197.1:n.*25_*28del | |
| ENST00000635628.1:c.*1101_*1104del | ENSP00000489613.1:n.*1101_*1104del | |
| NM_001032289.2:c.617_620del | NP_001027460.1:p.Gln206ArgfsTer? | |
| NM_001042498.2:c.*25_*28del | NP_001035963.1:n.*25_*28del | |
| NM_001282647.1:c.573+44_573+47del | NP_001269576.1:n.573+44_573+47del | |
| NM_001282648.1:c.545_548del | NP_001269577.1:p.Gln182ArgfsTer? | |
| NM_001282649.1:c.*25_*28del | NP_001269578.1:n.*25_*28del | |
| NM_001282650.1:c.*25_*28del | NP_001269579.1:n.*25_*28del | |
| NM_001282651.1:c.*25_*28del | NP_001269580.1:n.*25_*28del | |
| NM_005660.2:c.1163+44_1163+47del | NP_005651.1:n.1163+44_1163+47del | |
| NM_005660.3:c.1163+44_1163+47del MANE Select | NP_005651.1:n.1163+44_1163+47del | |
| NM_001032289.3:c.617_620del | NP_001027460.1:p.Gln206ArgfsTer? | |
| NM_001042498.3:c.*25_*28del | NP_001035963.1:n.*25_*28del | |
| NM_001282647.2:c.573+44_573+47del | NP_001269576.1:n.573+44_573+47del | |
| NM_001282649.2:c.*25_*28del | NP_001269578.1:n.*25_*28del | |
| NM_001282650.2:c.*25_*28del | NP_001269579.1:n.*25_*28del | |
| NM_001282651.2:c.*25_*28del | NP_001269580.1:n.*25_*28del | |
| NM_001282648.2:c.545_548del | NP_001269577.1:p.Gln182ArgfsTer? |