Linked Data
dbSNP Id:
rs1260837194
gnomAD v2:
17-4613970-A-AGGCTGCGAGCGAGCC
gnomAD v3:
17-4710675-A-AGGCTGCGAGCGAGCC
gnomAD v4:
17-4710675-A-AGGCTGCGAGCGAGCC
MyVariant Identifiers:
chr17:g.4613970_4613971insGGCTGCGAGCGAGCC (hg19)
chr17:g.4710675_4710676insGGCTGCGAGCGAGCC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.4710677_4710691dup , CM000679.2:g.4710677_4710691dup | GRCh38 |
| NC_000017.10:g.4613972_4613986dup , CM000679.1:g.4613972_4613986dup | GRCh37 |
| NC_000017.9:g.4560721_4560735dup | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269260.7:c.-45_-31dup MANE Select | ENSP00000269260.2:n.-45_-31dup | |
| ENST00000269260.6:c.-45_-31dup | ENSP00000269260.2:n.-45_-31dup | |
| ENST00000346341.6:c.-45_-31dup | ENSP00000341895.2:n.-45_-31dup | |
| ENST00000570718.5:n.46_60dup | ||
| ENST00000570739.5:n.46_60dup | ||
| ENST00000572457.5:c.-529_-515dup | ENSP00000465296.1:n.-529_-515dup | |
| ENST00000574502.5:c.-45_-31dup | ENSP00000458371.1:n.-45_-31dup | |
| ENST00000574888.5:n.23_37dup | ||
| ENST00000574954.5:c.-590_-576dup | ENSP00000466344.1:n.-590_-576dup | |
| ENST00000575131.5:n.17_31dup | ||
| NM_001257328.1:c.-45_-31dup | NP_001244257.1:n.-45_-31dup | |
| NM_001257329.1:c.-45_-31dup | NP_001244258.1:n.-45_-31dup | |
| NM_001257330.1:c.-45_-31dup | NP_001244259.1:n.-45_-31dup | |
| NM_001257331.1:c.-45_-31dup | NP_001244260.1:n.-45_-31dup | |
| NM_004313.3:c.-45_-31dup | NP_004304.1:n.-45_-31dup | |
| NM_199004.1:c.-45_-31dup | NP_945355.1:n.-45_-31dup | |
| NR_047516.1:n.184_198dup | ||
| XM_006721520.1:c.-545_-531dup | XP_006721583.1:n.-545_-531dup | |
| NM_001330064.1:c.-545_-531dup | NP_001316993.1:n.-545_-531dup | |
| XM_024450751.1:c.-45_-31dup | XP_024306519.1:n.-45_-31dup | |
| XM_024450752.1:c.-590_-576dup | XP_024306520.1:n.-590_-576dup | |
| XM_024450753.1:c.-545_-531dup | XP_024306521.1:n.-545_-531dup | |
| XR_002958006.1:n.48_62dup | ||
| XR_002958007.1:n.48_62dup | ||
| NM_004313.4:c.-45_-31dup MANE Select | NP_004304.1:n.-45_-31dup | |
| NM_001257328.2:c.-45_-31dup | NP_001244257.1:n.-45_-31dup | |
| NM_001257329.2:c.-45_-31dup | NP_001244258.1:n.-45_-31dup | |
| NM_001257330.2:c.-45_-31dup | NP_001244259.1:n.-45_-31dup | |
| NM_001257331.2:c.-45_-31dup | NP_001244260.1:n.-45_-31dup | |
| NM_001330064.2:c.-545_-531dup | NP_001316993.1:n.-545_-531dup | |
| NM_199004.2:c.-45_-31dup | NP_945355.1:n.-45_-31dup | |
| NR_047516.2:n.46_60dup |