Linked Data
ClinVar Variation Id:
490957
dbSNP Id:
rs56130510
ExAC:
2:215657182 TAAA / T
gnomAD v2:
2-215657182-TAAA-T
gnomAD v3:
2-214792458-TAAA-T
gnomAD v4:
2-214792458-TAAA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.214792472_214792474del , CM000664.2:g.214792472_214792474del | GRCh38 |
| NC_000002.11:g.215657196_215657198del , CM000664.1:g.215657196_215657198del | GRCh37 |
| NC_000002.10:g.215365441_215365443del | NCBI36 |
| NG_012047.2:g.22244_22246del | |
| NG_012047.3:g.22251_22253del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260947.9:c.216-16_216-14del MANE Select | ENSP00000260947.4:n.216-16_216-14del | |
| ENST00000421162.2:c.215+4600_215+4602del | ENSP00000392245.2:n.215+4600_215+4602del | |
| ENST00000613192.2:c.158+16951_158+16953del | ENSP00000483275.2:n.158+16951_158+16953del | |
| ENST00000613374.5:c.158+16951_158+16953del | ENSP00000484464.1:n.158+16951_158+16953del | |
| ENST00000613706.5:c.216-16_216-14del | ENSP00000484976.2:n.216-16_216-14del | |
| ENST00000617164.5:c.159-16_159-14del | ENSP00000480470.1:n.159-16_159-14del | |
| ENST00000619009.5:c.216-16_216-14del | ENSP00000482293.1:n.216-16_216-14del | |
| ENST00000650978.1:c.58-16_58-14del | ||
| ENST00000260947.8:c.216-16_216-14del | ENSP00000260947.4:n.216-16_216-14del | |
| ENST00000421162.1:c.215+4600_215+4602del | ENSP00000392245.1:n.215+4600_215+4602del | |
| ENST00000455743.5:c.215+4600_215+4602del | ENSP00000412186.1:n.215+4600_215+4602del | |
| ENST00000471787.1:n.260-10952_260-10950del | ||
| ENST00000613192.1:c.73+16951_73+16953del | ENSP00000483275.1:n.73+16951_73+16953del | |
| ENST00000613374.4:c.158+16951_158+16953del | ENSP00000484464.1:n.158+16951_158+16953del | |
| ENST00000613706.4:c.215+4600_215+4602del | ENSP00000484976.1:n.215+4600_215+4602del | |
| ENST00000617164.4:c.159-16_159-14del | ENSP00000480470.1:n.159-16_159-14del | |
| ENST00000619009.4:c.216-16_216-14del | ENSP00000482293.1:n.216-16_216-14del | |
| ENST00000620057.4:c.216-16_216-14del | ENSP00000481988.1:n.216-16_216-14del | |
| NM_000465.3:c.216-16_216-14del | NP_000456.2:n.216-16_216-14del | |
| NM_001282543.1:c.159-16_159-14del | NP_001269472.1:n.159-16_159-14del | |
| NM_001282545.1:c.215+4600_215+4602del | NP_001269474.1:n.215+4600_215+4602del | |
| NM_001282548.1:c.158+16951_158+16953del | NP_001269477.1:n.158+16951_158+16953del | |
| NM_001282549.1:c.216-16_216-14del | NP_001269478.1:n.216-16_216-14del | |
| NR_104212.1:n.357+4600_357+4602del | ||
| NR_104215.1:n.301-10952_301-10950del | ||
| NR_104216.1:n.358-16_358-14del | ||
| XM_011511567.1:c.162-16_162-14del | XP_011509869.1:n.162-16_162-14del | |
| XM_011511568.1:c.216-16_216-14del | XP_011509870.1:n.216-16_216-14del | |
| XM_017004613.1:c.315-16_315-14del | XP_016860102.1:n.315-16_315-14del | |
| XM_017004614.1:c.315-16_315-14del | XP_016860103.1:n.315-16_315-14del | |
| XR_002959322.1:n.406-16_406-14del | ||
| NM_000465.4:c.216-16_216-14del MANE Select | NP_000456.2:n.216-16_216-14del | |
| NM_001282543.2:c.159-16_159-14del | NP_001269472.1:n.159-16_159-14del | |
| NM_001282545.2:c.215+4600_215+4602del | NP_001269474.1:n.215+4600_215+4602del | |
| NM_001282548.2:c.158+16951_158+16953del | NP_001269477.1:n.158+16951_158+16953del | |
| NM_001282549.2:c.216-16_216-14del | NP_001269478.1:n.216-16_216-14del | |
| NR_104212.2:n.329+4600_329+4602del | ||
| NR_104215.2:n.273-10952_273-10950del | ||
| NR_104216.2:n.330-16_330-14del |