Linked Data
ClinVar Variation Id:
53792
ClinVar RCV Id:
RCV000576946
dbSNP Id:
rs1554395323
PubMed:
PMID:20560922
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117642414_117643194del , CM000669.2:g.117642414_117643194del | GRCh38 |
| NC_000007.13:g.117282468_117283248del , CM000669.1:g.117282468_117283248del | GRCh37 |
| NC_000007.12:g.117069704_117070484del | NCBI36 |
| NG_016465.4:g.181631_182411del , LRG_663:g.181631_182411del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647720.2:c.3518-24_*82+601del | ||
| ENST00000647978.2:c.*3432-24_*3587+601del | ||
| ENST00000649781.2:c.3535-24_3690+601del | ||
| ENST00000685018.2:c.3718-24_*86+211del | ||
| ENST00000687278.2:c.*371-24_*526+601del | ||
| ENST00000699585.1:c.3518-24_*82+601del | ||
| ENST00000699598.1:c.3718-24_3873+601del | ||
| ENST00000699599.1:c.3718-24_*86+211del | ||
| ENST00000699600.1:c.*379-24_*534+601del | ||
| ENST00000699601.1:c.*2093-24_*2248+601del | ||
| ENST00000699602.1:c.3712-24_3867+601del | ||
| ENST00000699604.1:c.*3542-24_*3697+601del | ||
| ENST00000699605.1:c.3292-24_3447+601del | ||
| ENST00000685018.1:c.466-24_737+211del | ||
| ENST00000687278.1:c.1505-24_1660+601del | ||
| ENST00000689011.1:c.300-24_455+601del | ||
| ENST00000003084.11:c.3718-24_3873+601del | ||
| ENST00000647720.1:c.1168-24_1323+601del | ||
| ENST00000649781.1:c.3535-24_3690+601del | ||
| ENST00000003084.10:c.3718-24_3873+601del | ||
| ENST00000426809.5:c.3628-24_3783+601del | ||
| NM_000492.3:c.3718-24_3873+601del , LRG_663t1:c.3718-24_3873+601del | ||
| XM_011515751.1:c.3808-24_3963+601del | ||
| XM_011515752.1:c.3808-24_3963+601del | ||
| XM_011515753.1:c.3475-24_3630+601del | ||
| XM_011515754.1:c.3475-24_3630+601del | ||
| NM_000492.4:c.3718-24_3873+601del |