Linked Data
ClinVar Variation Id:
16590
ClinVar RCV Id:
RCV000018058
dbSNP Id:
rs121913043
MyVariant Identifiers:
chr6:g.152382229_152382230delinsGC (hg19)
chr6:g.152061094_152061095delinsGC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.152061094_152061095delinsGC , CM000668.2:g.152061094_152061095delinsGC | GRCh38 |
| NC_000006.11:g.152382229_152382230delinsGC , CM000668.1:g.152382229_152382230delinsGC | GRCh37 |
| NC_000006.10:g.152423922_152423923delinsGC | NCBI36 |
| NG_008493.1:g.375599_375600delinsGC | |
| NG_008493.2:g.409404_409405delinsGC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000206249.8:c.1339_1340delinsGC MANE Select | ENSP00000206249.3:p.Cys447Ala | |
| ENST00000638569.1:c.43-33385_43-33384delinsGC | ENSP00000491412.1:n.43-33385_43-33384delinsGC | |
| ENST00000641399.1:n.667_668delinsGC | ||
| ENST00000206249.7:c.1339_1340delinsGC | ENSP00000206249.3:p.Cys447Ala | |
| ENST00000338799.9:c.1339_1340delinsGC | ENSP00000342630.5:p.Cys447Ala | |
| ENST00000406599.5:c.556_557delinsGC | ENSP00000384064.1:p.Cys186Ala | |
| ENST00000427531.6:c.820_821delinsGC | ENSP00000394721.2:p.Cys274Ala | |
| ENST00000440973.5:c.1339_1340delinsGC | ENSP00000405330.1:p.Cys447Ala | |
| ENST00000443427.5:c.1339_1340delinsGC | ENSP00000387500.1:p.Cys447Ala | |
| ENST00000456483.3:c.*214_*215delinsGC | ENSP00000415934.3:n.*214_*215delinsGC | |
| NM_000125.3:c.1339_1340delinsGC | NP_000116.2:p.Cys447Ala | |
| NM_001122740.1:c.1339_1340delinsGC | NP_001116212.1:p.Cys447Ala | |
| NM_001122741.1:c.1339_1340delinsGC | NP_001116213.1:p.Cys447Ala | |
| NM_001122742.1:c.1339_1340delinsGC | NP_001116214.1:p.Cys447Ala | |
| NM_001291230.1:c.1345_1346delinsGC | NP_001278159.1:p.Cys449Ala | |
| NM_001291241.1:c.1336_1337delinsGC | NP_001278170.1:p.Cys446Ala | |
| XM_006715374.2:c.1339_1340delinsGC | XP_006715437.1:p.Cys447Ala | |
| XM_006715375.2:c.820_821delinsGC | XP_006715438.1:p.Cys274Ala | |
| XM_011535543.1:c.1339_1340delinsGC | XP_011533845.1:p.Cys447Ala | |
| XM_011535544.1:c.1339_1340delinsGC | XP_011533846.1:p.Cys447Ala | |
| XM_011535545.1:c.1339_1340delinsGC | XP_011533847.1:p.Cys447Ala | |
| XM_011535546.1:c.1339_1340delinsGC | XP_011533848.1:p.Cys447Ala | |
| XM_011535547.1:c.1339_1340delinsGC | XP_011533849.1:p.Cys447Ala | |
| XM_011535548.1:c.820_821delinsGC | XP_011533850.1:p.Cys274Ala | |
| XM_011535549.1:c.610_611delinsGC | XP_011533851.1:p.Cys204Ala | |
| NM_001328100.1:c.820_821delinsGC | NP_001315029.1:p.Cys274Ala | |
| XM_006715374.3:c.1339_1340delinsGC | XP_006715437.1:p.Cys447Ala | |
| XM_006715375.3:c.820_821delinsGC | XP_006715438.1:p.Cys274Ala | |
| XM_011535543.2:c.1339_1340delinsGC | XP_011533845.1:p.Cys447Ala | |
| XM_011535544.2:c.1339_1340delinsGC | XP_011533846.1:p.Cys447Ala | |
| XM_011535545.2:c.1339_1340delinsGC | XP_011533847.1:p.Cys447Ala | |
| XM_011535547.2:c.1339_1340delinsGC | XP_011533849.1:p.Cys447Ala | |
| XM_011535549.2:c.610_611delinsGC | XP_011533851.1:p.Cys204Ala | |
| XM_017010376.1:c.1339_1340delinsGC | XP_016865865.1:p.Cys447Ala | |
| XM_017010377.1:c.1339_1340delinsGC | XP_016865866.1:p.Cys447Ala | |
| XM_017010378.1:c.1339_1340delinsGC | XP_016865867.1:p.Cys447Ala | |
| XM_017010379.1:c.1339_1340delinsGC | XP_016865868.1:p.Cys447Ala | |
| XM_017010380.1:c.1339_1340delinsGC | XP_016865869.1:p.Cys447Ala | |
| XM_017010381.1:c.1339_1340delinsGC | XP_016865870.1:p.Cys447Ala | |
| XM_017010382.2:c.682_683delinsGC | XP_016865871.1:p.Cys228Ala | |
| XM_017010383.1:c.550_551delinsGC | XP_016865872.1:p.Cys184Ala | |
| XR_001743223.2:n.1570_1571delinsGC | ||
| XR_002956266.1:n.1570_1571delinsGC | ||
| NM_000125.4:c.1339_1340delinsGC MANE Select | NP_000116.2:p.Cys447Ala | |
| NM_001328100.2:c.820_821delinsGC | NP_001315029.1:p.Cys274Ala | |
| NM_001122740.2:c.1339_1340delinsGC | NP_001116212.1:p.Cys447Ala | |
| NM_001122741.2:c.1339_1340delinsGC | NP_001116213.1:p.Cys447Ala | |
| NM_001122742.2:c.1339_1340delinsGC | NP_001116214.1:p.Cys447Ala | |
| NM_001291230.2:c.1345_1346delinsGC | NP_001278159.1:p.Cys449Ala | |
| NM_001291241.2:c.1336_1337delinsGC | NP_001278170.1:p.Cys446Ala | |
| NM_001385568.1:c.1339_1340delinsGC | NP_001372497.1:p.Cys447Ala | |
| NM_001385569.1:c.1339_1340delinsGC | NP_001372498.1:p.Cys447Ala | |
| NM_001385570.1:c.1339_1340delinsGC | NP_001372499.1:p.Cys447Ala | |
| NM_001385571.1:c.1339_1340delinsGC | NP_001372500.1:p.Cys447Ala | |
| NM_001385572.1:c.1339_1340delinsGC | NP_001372501.1:p.Cys447Ala |