Linked Data
ClinVar Variation Id:
208610
ClinVar RCV Id:
RCV000190622
dbSNP Id:
rs797045105
gnomAD v3:
6-158150452-C-CCATG
gnomAD v4:
6-158150452-C-CCATG
MyVariant Identifiers:
chr6:g.158571484_158571485insCATG (hg19)
chr6:g.158150452_158150453insCATG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.158150453_158150456dup , CM000668.2:g.158150453_158150456dup | GRCh38 |
| NC_000006.11:g.158571485_158571488dup , CM000668.1:g.158571485_158571488dup | GRCh37 |
| NC_000006.10:g.158491473_158491476dup | NCBI36 |
| NG_032889.1:g.22825_22828dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000607071.6:c.*96_*99dup | ENSP00000475855.1:n.*96_*99dup | |
| ENST00000642244.1:c.262_265dup | ENSP00000493554.1:p.Asp89AlafsTer2 | |
| ENST00000642903.1:c.262_265dup | ENSP00000493559.1:p.Gly89AlafsTer? | |
| ENST00000643093.1:n.312_315dup | ||
| ENST00000644972.1:c.262_265dup | ENSP00000496451.1:p.Gly89AlafsTer? | |
| ENST00000645077.1:c.*96_*99dup | ENSP00000496113.1:n.*96_*99dup | |
| ENST00000645172.1:c.*96_*99dup | ENSP00000495367.1:n.*96_*99dup | |
| ENST00000646190.1:n.1493_1496dup | ||
| ENST00000646208.1:c.92-3543_92-3540dup | ENSP00000493723.1:n.92-3543_92-3540dup | |
| ENST00000646410.1:c.223_226dup | ENSP00000494205.1:p.Asp76AlafsTer2 | |
| ENST00000646562.1:c.*96_*99dup | ENSP00000496087.1:n.*96_*99dup | |
| ENST00000647468.2:c.262_265dup MANE Select | ENSP00000496731.1:p.Gly89AlafsTer? | |
| ENST00000648111.1:c.236_239dup | ENSP00000497275.1:p.Trp80CysfsTer16 | |
| ENST00000367101.5:c.262_265dup | ENSP00000356068.1:p.Gly89AlafsTer? | |
| ENST00000367104.7:c.262_265dup | ENSP00000356071.3:p.Gly89AlafsTer? | |
| ENST00000606965.5:c.262_265dup | ENSP00000475808.1:p.Gly89AlafsTer? | |
| ENST00000607000.1:c.262_265dup | ENSP00000475788.1:p.Gly89AlafsTer? | |
| ENST00000607071.5:c.*96_*99dup | ENSP00000475855.1:n.*96_*99dup | |
| ENST00000607742.5:c.*96_*99dup | ENSP00000475523.1:n.*96_*99dup | |
| NM_032861.3:c.262_265dup | NP_116250.3:p.Gly89AlafsTer? | |
| NR_073096.1:n.404_407dup | ||
| XM_006715586.1:c.52_55dup | XP_006715649.1:p.Gly19AlafsTer? | |
| XM_011536196.1:c.241_244dup | XP_011534498.1:p.Gly82AlafsTer? | |
| XM_011536197.1:c.262_265dup | XP_011534499.1:p.Gly89AlafsTer? | |
| XM_011536198.1:c.52_55dup | XP_011534500.1:p.Gly19AlafsTer? | |
| XR_942606.1:n.263_266dup | ||
| XM_006715586.3:c.52_55dup | XP_006715649.1:p.Gly19AlafsTer? | |
| XM_011536196.3:c.241_244dup | XP_011534498.1:p.Gly82AlafsTer? | |
| XM_011536198.3:c.52_55dup | XP_011534500.1:p.Gly19AlafsTer? | |
| XM_024446573.1:c.262_265dup | XP_024302341.1:p.Gly89AlafsTer? | |
| XR_001743697.2:n.343_346dup | ||
| XR_942606.2:n.394_397dup | ||
| NM_032861.4:c.262_265dup MANE Select | NP_116250.3:p.Gly89AlafsTer? | |
| NR_073096.2:n.386_389dup |