Linked Data
ClinVar Variation Id:
185552
dbSNP Id:
rs750616657
ExAC:
22:29115401 A / ATGAT
gnomAD v2:
22-29115401-A-ATGAT
gnomAD v4:
22-28719413-A-ATGAT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.28719414_28719417dup , CM000684.2:g.28719414_28719417dup | GRCh38 |
| NC_000022.10:g.29115402_29115405dup , CM000684.1:g.29115402_29115405dup | GRCh37 |
| NC_000022.9:g.27445402_27445405dup | NCBI36 |
| NG_008150.1:g.27418_27421dup | |
| NG_008150.2:g.27450_27453dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000439346.6:c.592+5560_592+5563dup | ENSP00000396903.2:n.592+5560_592+5563dup | |
| ENST00000711048.1:c.661_664dup | ENSP00000518557.1:p.Met222AsnfsTer24 | |
| ENST00000402731.6:c.482+5469_482+5472dup | ENSP00000384835.2:n.482+5469_482+5472dup | |
| ENST00000404276.6:c.661_664dup MANE Select | ENSP00000385747.1:p.Met222AsnfsTer24 | |
| ENST00000425190.7:c.-3_1dup | ENSP00000390244.2:p.Met1AsnfsTer24 | |
| ENST00000649563.1:c.-3_1dup | ENSP00000496928.1:p.Met1AsnfsTer24 | |
| ENST00000650281.1:c.661_664dup | ENSP00000497000.1:p.Met222AsnfsTer24 | |
| ENST00000328354.10:c.661_664dup | ENSP00000329178.6:p.Met222AsnfsTer24 | |
| ENST00000348295.7:c.661_664dup | ENSP00000329012.5:p.Met222AsnfsTer24 | |
| ENST00000382580.6:c.790_793dup | ENSP00000372023.2:p.Met265AsnfsTer24 | |
| ENST00000402731.5:c.661_664dup | ENSP00000384835.1:p.Met222AsnfsTer24 | |
| ENST00000403642.5:c.388_391dup | ENSP00000384919.1:p.Met131AsnfsTer24 | |
| ENST00000404276.5:c.661_664dup | ENSP00000385747.1:p.Met222AsnfsTer24 | |
| ENST00000405598.5:c.661_664dup | ENSP00000386087.1:p.Met222AsnfsTer24 | |
| ENST00000416671.5:c.*151_*154dup | ENSP00000402225.1:n.*151_*154dup | |
| ENST00000417588.5:c.592+5560_592+5563dup | ENSP00000412901.1:n.592+5560_592+5563dup | |
| ENST00000425190.6:c.-3_1dup | ENSP00000390244.1:p.Met1AsnfsTer24 | |
| ENST00000433028.6:c.*386_*389dup | ENSP00000403659.1:n.*386_*389dup | |
| ENST00000433728.5:c.661_664dup | ENSP00000404400.1:p.Met222AsnfsTer24 | |
| ENST00000439200.5:c.754_757dup | ENSP00000408065.1:p.Met253AsnfsTer24 | |
| ENST00000439346.5:c.154+5560_154+5563dup | ENSP00000396903.1:n.154+5560_154+5563dup | |
| ENST00000447421.5:c.482+5469_482+5472dup | ENSP00000397478.2:n.482+5469_482+5472dup | |
| ENST00000448511.5:c.551_554dup | ENSP00000404567.1:n.551_554dup | |
| NM_001005735.1:c.790_793dup | NP_001005735.1:p.Met265AsnfsTer24 | |
| NM_001257387.1:c.-3_1dup | NP_001244316.1:p.Met1AsnfsTer24 | |
| NM_007194.3:c.661_664dup | NP_009125.1:p.Met222AsnfsTer24 | |
| NM_145862.2:c.661_664dup | NP_665861.1:p.Met222AsnfsTer24 | |
| XM_011529839.1:c.820_823dup | XP_011528141.1:p.Met275AsnfsTer24 | |
| XM_011529840.1:c.820_823dup | XP_011528142.1:p.Met275AsnfsTer24 | |
| XM_011529841.1:c.611+5469_611+5472dup | XP_011528143.1:n.611+5469_611+5472dup | |
| XM_011529842.1:c.512+5469_512+5472dup | XP_011528144.1:n.512+5469_512+5472dup | |
| XM_011529843.1:c.482+5469_482+5472dup | XP_011528145.1:n.482+5469_482+5472dup | |
| XM_011529844.1:c.820_823dup | XP_011528146.1:p.Met275AsnfsTer24 | |
| XM_011529845.1:c.-3_1dup | XP_011528147.1:p.Met1AsnfsTer24 | |
| XR_937805.1:n.882_885dup | ||
| XR_937806.1:n.877_880dup | ||
| XR_937807.1:n.877_880dup | ||
| NM_001349956.1:c.482+5469_482+5472dup | NP_001336885.1:n.482+5469_482+5472dup | |
| NM_007194.4:c.661_664dup MANE Select | NP_009125.1:p.Met222AsnfsTer24 | |
| XM_011529839.2:c.820_823dup | XP_011528141.1:p.Met275AsnfsTer24 | |
| XM_011529840.3:c.820_823dup | XP_011528142.1:p.Met275AsnfsTer24 | |
| XM_011529842.2:c.512+5469_512+5472dup | XP_011528144.1:n.512+5469_512+5472dup | |
| XM_011529844.2:c.820_823dup | XP_011528146.1:p.Met275AsnfsTer24 | |
| XM_011529845.2:c.-3_1dup | XP_011528147.1:p.Met1AsnfsTer24 | |
| XM_017028560.1:c.784_787dup | XP_016884049.1:p.Met263AsnfsTer24 | |
| XM_017028561.2:c.-3_1dup | XP_016884050.1:p.Met1AsnfsTer24 | |
| XM_024452148.1:c.691_694dup | XP_024307916.1:p.Met232AsnfsTer24 | |
| XM_024452149.1:c.691_694dup | XP_024307917.1:p.Met232AsnfsTer24 | |
| XR_937805.2:n.893_896dup | ||
| XR_937806.2:n.893_896dup | ||
| XR_937807.2:n.893_896dup | ||
| NM_001005735.2:c.790_793dup | NP_001005735.1:p.Met265AsnfsTer24 | |
| NM_001257387.2:c.-3_1dup | NP_001244316.1:p.Met1AsnfsTer24 | |
| NM_001349956.2:c.482+5469_482+5472dup | NP_001336885.1:n.482+5469_482+5472dup |