Linked Data
ClinVar Variation Id:
188967
ClinVar RCV Id:
RCV000169342
dbSNP Id:
rs786204593
gnomAD v2:
15-75183736-A-AC
gnomAD v4:
15-74891395-A-AC
MyVariant Identifiers:
chr15:g.75183741dupC (hg19)
chr15:g.75183736_75183737insC (hg19)
chr15:g.74891400dupC (hg38)
chr15:g.74891395_74891396insC (hg38)
PubMed:
PMID:10980531
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.74891400dup , CM000677.2:g.74891400dup | GRCh38 |
| NC_000015.9:g.75183741dup , CM000677.1:g.75183741dup | GRCh37 |
| NC_000015.8:g.72970794dup | NCBI36 |
| NG_008921.1:g.6332dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000352410.9:c.166dup MANE Select | ENSP00000318318.6:p.Arg56ProfsTer8 | |
| ENST00000323744.10:c.166dup | ENSP00000318192.6:p.Arg56ProfsTer8 | |
| ENST00000352410.8:c.166dup | ENSP00000318318.6:p.Arg56ProfsTer8 | |
| ENST00000535694.5:c.16dup | ENSP00000440447.1:p.Arg6ProfsTer8 | |
| ENST00000561470.5:c.*62dup | ENSP00000454267.1:n.*62dup | |
| ENST00000562606.5:c.106dup | ENSP00000457020.1:p.Arg36ProfsTer8 | |
| ENST00000562800.5:c.166dup | ENSP00000457619.1:p.Arg56ProfsTer8 | |
| ENST00000563422.5:c.166dup | ENSP00000457885.1:p.Arg56ProfsTer8 | |
| ENST00000563786.5:c.106dup | ENSP00000455241.1:p.Arg36ProfsTer8 | |
| ENST00000564003.5:c.16dup | ENSP00000454312.1:p.Arg6ProfsTer8 | |
| ENST00000564633.5:c.106dup | ENSP00000455383.1:p.Arg36ProfsTer8 | |
| ENST00000565576.5:c.166dup | ENSP00000454619.1:p.Arg56ProfsTer8 | |
| ENST00000566377.5:c.166dup | ENSP00000455405.1:p.Arg56ProfsTer8 | |
| ENST00000567116.5:n.197dup | ||
| ENST00000567132.5:c.166dup | ENSP00000455972.1:p.Arg56ProfsTer8 | |
| ENST00000567177.1:c.127dup | ENSP00000457013.1:p.Arg43ProfsTer8 | |
| ENST00000567570.5:c.106dup | ENSP00000455477.1:p.Arg36ProfsTer8 | |
| ENST00000568828.5:c.145-15dup | ENSP00000455065.1:n.145-15dup | |
| ENST00000568840.1:n.275dup | ||
| ENST00000568907.5:c.166dup | ENSP00000457494.1:p.Arg56ProfsTer8 | |
| ENST00000569233.5:c.223dup | ENSP00000454622.1:p.Arg75ProfsTer8 | |
| ENST00000569931.5:c.106dup | ENSP00000455161.1:p.Arg36ProfsTer8 | |
| NM_001289155.1:c.166dup | NP_001276084.1:p.Arg56ProfsTer8 | |
| NM_001289156.1:c.16dup | NP_001276085.1:p.Arg6ProfsTer8 | |
| NM_001289157.1:c.166dup | NP_001276086.1:p.Arg56ProfsTer8 | |
| NM_002435.2:c.166dup | NP_002426.1:p.Arg56ProfsTer8 | |
| XM_011521592.1:c.154dup | XP_011519894.1:p.Arg52ProfsTer8 | |
| XM_011521593.1:c.106dup | XP_011519895.1:p.Arg36ProfsTer8 | |
| NM_001330372.1:c.106dup | NP_001317301.1:p.Arg36ProfsTer8 | |
| XM_017022208.1:c.106dup | XP_016877697.1:p.Arg36ProfsTer8 | |
| XM_017022209.2:c.16dup | XP_016877698.1:p.Arg6ProfsTer8 | |
| NM_002435.3:c.166dup MANE Select | NP_002426.1:p.Arg56ProfsTer8 | |
| NM_001289155.2:c.166dup | NP_001276084.1:p.Arg56ProfsTer8 | |
| NM_001289156.2:c.16dup | NP_001276085.1:p.Arg6ProfsTer8 | |
| NM_001289157.2:c.166dup | NP_001276086.1:p.Arg56ProfsTer8 | |
| NM_001330372.2:c.106dup | NP_001317301.1:p.Arg36ProfsTer8 |