Linked Data
ClinVar Variation Id:
664421
ClinVar RCV Id:
RCV000822519
dbSNP Id:
rs748325646
gnomAD v2:
X-136648984-ACGCCGC-A
gnomAD v3:
X-137566825-ACGCCGC-A
gnomAD v4:
X-137566825-ACGCCGC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.137566847_137566852del , CM000685.2:g.137566847_137566852del | GRCh38 |
| NC_000023.10:g.136649006_136649011del , CM000685.1:g.136649006_136649011del | GRCh37 |
| NC_000023.9:g.136476672_136476677del | NCBI36 |
| NG_008115.1:g.5661_5666del | |
| NG_008115.2:g.5721_5726del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000287538.10:c.156_161del MANE Select | ENSP00000287538.5:p.Ala53_Ala54del | |
| ENST00000287538.9:c.156_161del | ENSP00000287538.5:p.Ala53_Ala54del | |
| ENST00000370606.3:c.156_161del | ENSP00000359638.3:p.Ala53_Ala54del | |
| NM_003413.3:c.156_161del | NP_003404.1:p.Ala53_Ala54del | |
| NM_001330661.1:c.156_161del | NP_001317590.1:p.Ala53_Ala54del | |
| NM_003413.4:c.156_161del MANE Select | NP_003404.1:p.Ala53_Ala54del |