Linked Data
ClinVar Variation Id:
859585
ClinVar RCV Id:
RCV001065734
dbSNP Id:
rs781977360
ExAC:
X:48762124 GGAGGCA / G
gnomAD v2:
X-48762124-GGAGGCA-G
gnomAD v3:
X-48904847-GGAGGCA-G
gnomAD v4:
X-48904847-GGAGGCA-G
COSMIC:
COSM287356
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.48904859_48904864del , CM000685.2:g.48904859_48904864del | GRCh38 |
| NC_000023.10:g.48762136_48762141del , CM000685.1:g.48762136_48762141del | GRCh37 |
| NC_000023.9:g.48647080_48647085del | NCBI36 |
| NG_015967.1:g.11942_11947del | |
| NG_034300.1:g.12106_12111del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000247138.11:c.1056_1061del MANE Select | ENSP00000247138.5:p.Ala353_Ser354del | |
| ENST00000247138.10:c.1056_1061del | ENSP00000247138.5:p.Ala353_Ser354del | |
| ENST00000376515.8:c.394_399del | ENSP00000365698.3:p.Cys132_Leu133del | |
| ENST00000376521.6:c.1056_1061del | ENSP00000365704.1:p.Ala353_Ser354del | |
| ENST00000376529.8:c.466_471del | ENSP00000365712.3:p.Cys156_Leu157del | |
| ENST00000413561.7:c.618_623del | ||
| ENST00000445167.7:c.466_471del | ENSP00000402726.2:p.Cys156_Leu157del | |
| ENST00000452555.7:c.1140_1145del | ENSP00000416002.2:p.Ala381_Ser382del | |
| ENST00000616181.5:c.1095_1100del | ENSP00000478617.1:p.Ala366_Ser367del | |
| ENST00000635285.1:c.1056_1061del | ENSP00000489484.1:p.Ala353_Ser354del | |
| ENST00000635460.1:c.425-1388_425-1383del | ||
| ENST00000635589.1:c.873_878del | ENSP00000489197.1:p.Ala292_Ser293del | |
| ENST00000635628.1:c.*950_*955del | ENSP00000489613.1:n.*950_*955del | |
| NM_001032289.2:c.466_471del | NP_001027460.1:p.Cys156_Leu157del | |
| NM_001042498.2:c.1056_1061del | NP_001035963.1:p.Ala353_Ser354del | |
| NM_001282647.1:c.466_471del | NP_001269576.1:p.Cys156_Leu157del | |
| NM_001282648.1:c.394_399del | NP_001269577.1:p.Cys132_Leu133del | |
| NM_001282649.1:c.873_878del | NP_001269578.1:p.Ala292_Ser293del | |
| NM_001282650.1:c.1095_1100del | NP_001269579.1:p.Ala366_Ser367del | |
| NM_001282651.1:c.1140_1145del | NP_001269580.1:p.Ala381_Ser382del | |
| NM_005660.2:c.1056_1061del | NP_005651.1:p.Ala353_Ser354del | |
| NM_005660.3:c.1056_1061del MANE Select | NP_005651.1:p.Ala353_Ser354del | |
| NM_001032289.3:c.466_471del | NP_001027460.1:p.Cys156_Leu157del | |
| NM_001042498.3:c.1056_1061del | NP_001035963.1:p.Ala353_Ser354del | |
| NM_001282647.2:c.466_471del | NP_001269576.1:p.Cys156_Leu157del | |
| NM_001282649.2:c.873_878del | NP_001269578.1:p.Ala292_Ser293del | |
| NM_001282650.2:c.1095_1100del | NP_001269579.1:p.Ala366_Ser367del | |
| NM_001282651.2:c.1140_1145del | NP_001269580.1:p.Ala381_Ser382del | |
| NM_001282648.2:c.394_399del | NP_001269577.1:p.Cys132_Leu133del |