Linked Data
dbSNP Id:
rs1219116776
gnomAD v2:
17-61555444-G-GGCT
gnomAD v3:
17-63478083-G-GGCT
gnomAD v4:
17-63478083-G-GGCT
MyVariant Identifiers:
chr17:g.61555444_61555445insGCT (hg19)
chr17:g.63478083_63478084insGCT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63478084_63478086dup , CM000679.2:g.63478084_63478086dup | GRCh38 |
| NC_000017.10:g.61555445_61555447dup , CM000679.1:g.61555445_61555447dup | GRCh37 |
| NC_000017.9:g.58909177_58909179dup | NCBI36 |
| NG_011648.1:g.6012_6014dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000290866.10:c.403_405dup MANE Select | ENSP00000290866.4:p.Ala135_Lys136insAla | |
| ENST00000290866.9:c.403_405dup | ENSP00000290866.4:p.Ala135_Lys136insAla | |
| ENST00000428043.5:c.403_405dup | ENSP00000397593.2:p.Ala135_Lys136insAla | |
| ENST00000579462.1:n.428_430dup | ||
| ENST00000580318.1:n.592_594dup | ||
| ENST00000582627.1:c.403_405dup | ENSP00000462280.1:p.Ala135_Lys136insAla | |
| ENST00000582678.5:c.403_405dup | ENSP00000462995.1:p.Ala135_Lys136insAla | |
| ENST00000583336.5:n.437_439dup | ||
| ENST00000584529.5:n.437_439dup | ||
| NM_000789.3:c.403_405dup | NP_000780.1:p.Ala135_Lys136insAla | |
| XM_005257110.1:c.-53_-51dup | XP_005257167.1:n.-53_-51dup | |
| NM_000789.4:c.403_405dup MANE Select | NP_000780.1:p.Ala135_Lys136insAla | |
| NM_001382700.1:c.168_170dup | NP_001369629.1:p.Leu57_Ser58insLeu | |
| NM_001382701.1:c.-212_-210dup | NP_001369630.1:n.-212_-210dup |