Linked Data
ClinVar Variation Id:
188856
dbSNP Id:
rs775059063
ExAC:
13:23915574 CAT / C
gnomAD v2:
13-23915574-CAT-C
gnomAD v3:
13-23341435-CAT-C
gnomAD v4:
13-23341435-CAT-C
PubMed:
PMID:23043354
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.23341436_23341437del , CM000675.2:g.23341436_23341437del | GRCh38 |
| NC_000013.10:g.23915575_23915576del , CM000675.1:g.23915575_23915576del | GRCh37 |
| NC_000013.9:g.22813575_22813576del | NCBI36 |
| NG_012342.1:g.97266_97267del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682775.1:c.2185+12348_2185+12349del | ENSP00000508399.1:n.2185+12348_2185+12349... | |
| ENST00000682944.1:c.2466_2467del | ENSP00000507173.1:p.Val824GlyfsTer4 | |
| ENST00000683210.1:c.2185+12348_2185+12349del | ENSP00000506739.1:n.2185+12348_2185+12349... | |
| ENST00000683270.1:c.2430_2431del | ENSP00000507624.1:p.Val812GlyfsTer4 | |
| ENST00000683367.1:c.2177-11953_2177-11952del | ENSP00000507780.1:n.2177-11953_2177-11952... | |
| ENST00000683489.1:c.2291+148_2291+149del | ENSP00000508403.1:n.2291+148_2291+149del | |
| ENST00000683680.1:c.2318+148_2318+149del | ENSP00000507223.1:n.2318+148_2318+149del | |
| ENST00000684163.1:c.2203+5374_2203+5375del | ENSP00000508262.1:n.2203+5374_2203+5375de... | |
| ENST00000684196.1:n.4543-11953_4543-11952del | ||
| ENST00000684325.1:c.2185+12348_2185+12349del | ENSP00000508121.1:n.2185+12348_2185+12349... | |
| ENST00000684385.1:c.2220+5374_2220+5375del | ENSP00000507855.1:n.2220+5374_2220+5375de... | |
| ENST00000684497.1:c.2185+12348_2185+12349del | ENSP00000507057.1:n.2185+12348_2185+12349... | |
| ENST00000382292.9:c.2439_2440del MANE Select | ENSP00000371729.3:p.Val815GlyfsTer4 | |
| ENST00000423156.2:c.2186-11953_2186-11952del | ENSP00000390925.2:n.2186-11953_2186-11952... | |
| ENST00000455470.6:c.2431+8_2431+9del | ENSP00000406565.2:n.2431+8_2431+9del | |
| ENST00000382292.7:c.2439_2440del | ENSP00000371729.3:p.Val815GlyfsTer4 | |
| ENST00000382298.7:c.2439_2440del | ENSP00000371735.3:p.Val815GlyfsTer4 | |
| ENST00000402364.1:c.189_190del | ENSP00000385844.1:p.Val65GlyfsTer4 | |
| ENST00000423156.1:c.1058-11953_1058-11952del | ENSP00000390925.1:n.1058-11953_1058-11952... | |
| ENST00000455470.5:c.2129+8_2129+9del | ||
| NM_001278055.1:c.1998_1999del | NP_001264984.1:p.Val668GlyfsTer4 | |
| NM_014363.5:c.2439_2440del | NP_055178.3:p.Val815GlyfsTer4 | |
| XM_005266338.1:c.2466_2467del | XP_005266395.1:p.Val824GlyfsTer4 | |
| XM_011535038.1:c.2490_2491del | XP_011533340.1:p.Val832GlyfsTer4 | |
| XM_011535039.1:c.2457_2458del | XP_011533341.1:p.Val821GlyfsTer4 | |
| XM_005266338.2:c.2466_2467del | XP_005266395.1:p.Val824GlyfsTer4 | |
| XM_011535039.2:c.2457_2458del | XP_011533341.1:p.Val821GlyfsTer4 | |
| XM_017020539.1:c.2430_2431del | XP_016876028.1:p.Val812GlyfsTer4 | |
| XM_024449337.1:c.2466_2467del | XP_024305105.1:p.Val824GlyfsTer4 | |
| NM_014363.6:c.2439_2440del MANE Select | NP_055178.3:p.Val815GlyfsTer4 | |
| NM_001278055.2:c.1998_1999del | NP_001264984.1:p.Val668GlyfsTer4 |