Linked Data
dbSNP Id:
rs781304967
gnomAD v2:
17-61575611-C-CCCTGCATT
gnomAD v3:
17-63498250-C-CCCTGCATT
gnomAD v4:
17-63498250-C-CCCTGCATT
MyVariant Identifiers:
chr17:g.61575611_61575612insCCTGCATT (hg19)
chr17:g.63498250_63498251insCCTGCATT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63498251_63498258dup , CM000679.2:g.63498251_63498258dup | GRCh38 |
| NC_000017.10:g.61575612_61575619dup , CM000679.1:g.61575612_61575619dup | GRCh37 |
| NC_000017.9:g.58929344_58929351dup | NCBI36 |
| NG_011648.1:g.26179_26186dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000290866.10:c.*885_*892dup MANE Select | ENSP00000290866.4:n.*885_*892dup | |
| ENST00000290866.9:c.*885_*892dup | ENSP00000290866.4:n.*885_*892dup | |
| ENST00000428043.5:c.*1228_*1235dup | ENSP00000397593.2:n.*1228_*1235dup | |
| ENST00000577647.2:c.1969+1266_1969+1273dup | ENSP00000464149.1:n.1969+1266_1969+1273dup | |
| NM_000789.3:c.*885_*892dup | NP_000780.1:n.*885_*892dup | |
| NM_001178057.1:c.*885_*892dup | NP_001171528.1:n.*885_*892dup | |
| NM_152830.2:c.*885_*892dup | NP_690043.1:n.*885_*892dup | |
| XM_005257110.1:c.*885_*892dup | XP_005257167.1:n.*885_*892dup | |
| XM_006721737.2:c.*885_*892dup | XP_006721800.2:n.*885_*892dup | |
| NM_000789.4:c.*885_*892dup MANE Select | NP_000780.1:n.*885_*892dup | |
| NM_001178057.2:c.*885_*892dup | NP_001171528.1:n.*885_*892dup | |
| NM_152830.3:c.*885_*892dup | NP_690043.1:n.*885_*892dup | |
| NM_001382700.1:c.*885_*892dup | NP_001369629.1:n.*885_*892dup | |
| NM_001382701.1:c.*885_*892dup | NP_001369630.1:n.*885_*892dup | |
| NM_001382702.1:c.*885_*892dup | NP_001369631.1:n.*885_*892dup | |
| NR_168483.1:n.3184_3191dup |