Linked Data
ClinVar Variation Id:
433408
ClinVar RCV Id:
RCV000499036
dbSNP Id:
rs387906353
MyVariant Identifiers:
chr16:g.16295915_16295947del (hg19)
chr16:g.16295914_16295946del (hg19)
chr16:g.16202058_16202090del (hg38)
chr16:g.16202057_16202089del (hg38)
PubMed:
PMID:15086542
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.16202059_16202091del , CM000678.2:g.16202059_16202091del | GRCh38 |
| NC_000016.9:g.16295916_16295948del , CM000678.1:g.16295916_16295948del | GRCh37 |
| NC_000016.8:g.16203417_16203449del | NCBI36 |
| NG_007558.2:g.26383_26415del | |
| NG_007558.3:g.26529_26561del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000574094.6:c.1088_1120del | ENSP00000507301.1:p.Gln363_Arg373del | |
| ENST00000622290.5:c.1088_1120del | ENSP00000483331.2:p.Gln363_Arg373del | |
| ENST00000205557.12:c.1088_1120del MANE Select | ENSP00000205557.7:p.Gln363_Arg373del | |
| ENST00000205557.11:c.1088_1120del | ENSP00000205557.7:p.Gln363_Arg373del | |
| ENST00000456970.6:c.1088_1120del | ENSP00000405002.2:p.Gln363_Arg373del | |
| ENST00000574094.5:n.1184_1216del | ||
| ENST00000577103.1:c.*955_*987del | ENSP00000459243.1:n.*955_*987del | |
| ENST00000622290.4:c.1088_1120del | ENSP00000483331.1:p.Gln363_Arg373del | |
| NM_001171.5:c.1088_1120del | NP_001162.4:p.Gln363_Arg373del | |
| XM_011522479.1:c.1088_1120del | XP_011520781.1:p.Gln363_Arg373del | |
| XM_011522480.1:c.746_778del | XP_011520782.1:p.Gln249_Arg259del | |
| XM_011522481.1:c.746_778del | XP_011520783.1:p.Gln249_Arg259del | |
| XM_011522482.1:c.1088_1120del | XP_011520784.1:p.Gln363_Arg373del | |
| XR_932836.1:n.1323_1355del | ||
| XR_932837.1:n.1324_1356del | ||
| XR_932838.1:n.1324_1356del | ||
| NM_001351800.1:c.746_778del | NP_001338729.1:p.Gln249_Arg259del | |
| NR_147784.1:n.1125_1157del | ||
| XM_011522479.2:c.1088_1120del | XP_011520781.1:p.Gln363_Arg373del | |
| XM_011522481.3:c.746_778del | XP_011520783.1:p.Gln249_Arg259del | |
| XM_011522482.3:c.1088_1120del | XP_011520784.1:p.Gln363_Arg373del | |
| XM_017023212.1:c.1088_1120del | XP_016878701.1:p.Gln363_Arg373del | |
| XM_017023214.1:c.1088_1120del | XP_016878703.1:p.Gln363_Arg373del | |
| XM_024450261.1:c.1124_1156del | XP_024306029.1:p.Gln375_Arg385del | |
| XR_932836.2:n.1269_1301del | ||
| XR_932837.3:n.1269_1301del | ||
| XR_932838.3:n.1269_1301del | ||
| NM_001171.6:c.1088_1120del MANE Select | NP_001162.5:p.Gln363_Arg373del |