Linked Data
ClinVar Variation Id:
550523
ClinVar RCV Id:
RCV000665289
dbSNP Id:
rs1555252672
MyVariant Identifiers:
chr13:g.23340502_23340504del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.23340506_23340508del , CM000675.2:g.23340506_23340508del | GRCh38 |
| NC_000013.10:g.23914645_23914647del , CM000675.1:g.23914645_23914647del | GRCh37 |
| NC_000013.9:g.22812645_22812647del | NCBI36 |
| NG_012342.1:g.98199_98201del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682775.1:c.2185+13281_2185+13283del | ENSP00000508399.1:n.2185+13281_2185+13283del | |
| ENST00000682944.1:c.3399_3401del | ENSP00000507173.1:p.Leu1134del | |
| ENST00000683210.1:c.2185+13281_2185+13283del | ENSP00000506739.1:n.2185+13281_2185+13283del | |
| ENST00000683270.1:c.3363_3365del | ENSP00000507624.1:p.Leu1122del | |
| ENST00000683367.1:c.2177-11020_2177-11018del | ENSP00000507780.1:n.2177-11020_2177-11018del | |
| ENST00000683489.1:c.2291+1081_2291+1083del | ENSP00000508403.1:n.2291+1081_2291+1083del | |
| ENST00000683680.1:c.2318+1081_2318+1083del | ENSP00000507223.1:n.2318+1081_2318+1083del | |
| ENST00000684163.1:c.2203+6307_2203+6309del | ENSP00000508262.1:n.2203+6307_2203+6309del | |
| ENST00000684196.1:n.4543-11020_4543-11018del | ||
| ENST00000684325.1:c.2185+13281_2185+13283del | ENSP00000508121.1:n.2185+13281_2185+13283del | |
| ENST00000684385.1:c.2220+6307_2220+6309del | ENSP00000507855.1:n.2220+6307_2220+6309del | |
| ENST00000684497.1:c.2185+13281_2185+13283del | ENSP00000507057.1:n.2185+13281_2185+13283del | |
| ENST00000382292.9:c.3372_3374del MANE Select | ENSP00000371729.3:p.Leu1125del | |
| ENST00000423156.2:c.2186-11020_2186-11018del | ENSP00000390925.2:n.2186-11020_2186-11018del | |
| ENST00000455470.6:c.2431+941_2431+943del | ENSP00000406565.2:n.2431+941_2431+943del | |
| ENST00000382292.7:c.3372_3374del | ENSP00000371729.3:p.Leu1125del | |
| ENST00000382298.7:c.3372_3374del | ENSP00000371735.3:p.Leu1125del | |
| ENST00000402364.1:c.1122_1124del | ENSP00000385844.1:p.Leu375del | |
| ENST00000423156.1:c.1058-11020_1058-11018del | ENSP00000390925.1:n.1058-11020_1058-11018del | |
| ENST00000455470.5:c.2129+941_2129+943del | ||
| NM_001278055.1:c.2931_2933del | NP_001264984.1:p.Leu978del | |
| NM_014363.5:c.3372_3374del | NP_055178.3:p.Leu1125del | |
| XM_005266338.1:c.3399_3401del | XP_005266395.1:p.Leu1134del | |
| XM_011535038.1:c.3423_3425del | XP_011533340.1:p.Leu1142del | |
| XM_011535039.1:c.3390_3392del | XP_011533341.1:p.Leu1131del | |
| XM_005266338.2:c.3399_3401del | XP_005266395.1:p.Leu1134del | |
| XM_011535039.2:c.3390_3392del | XP_011533341.1:p.Leu1131del | |
| XM_017020539.1:c.3363_3365del | XP_016876028.1:p.Leu1122del | |
| XM_024449337.1:c.3399_3401del | XP_024305105.1:p.Leu1134del | |
| NM_014363.6:c.3372_3374del MANE Select | NP_055178.3:p.Leu1125del | |
| NM_001278055.2:c.2931_2933del | NP_001264984.1:p.Leu978del |