Linked Data
dbSNP Id:
rs571467837
gnomAD v2:
5-127169068-A-AAC
gnomAD v3:
5-127833376-A-AAC
gnomAD v4:
5-127833376-A-AAC
MyVariant Identifiers:
chr5:g.127169068_127169069insAC (hg19)
chr5:g.127833376_127833377insAC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.127833376_127833377insAC , CM000667.2:g.127833376_127833377insAC | GRCh38 |
| NC_000005.9:g.127169068_127169069insAC , CM000667.1:g.127169068_127169069insAC | GRCh37 |
| NC_000005.8:g.127196967_127196968insAC | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706942.1:c.468+35214_468+35215insAC | ENSP00000516662.1:n.468+35214_468+35215insAC | |
| ENST00000514853.5:c.411+35214_411+35215insAC MANE Select | ENSP00000490579.2:n.411+35214_411+35215insAC | |
| ENST00000514853.4:c.411+35214_411+35215insAC | ENSP00000490579.2:n.411+35214_411+35215insAC | |
| XR_159059.3:n.500+35214_500+35215insAC | ||
| XR_246581.3:n.434+35214_434+35215insAC | ||
| XR_246582.2:n.366+35214_366+35215insAC | ||
| XR_948747.1:n.305-5959_305-5958insGT | ||
| XR_948748.1:n.396+35214_396+35215insAC | ||
| XR_948749.1:n.425+35214_425+35215insAC | ||
| XR_948750.1:n.593+35214_593+35215insAC | ||
| XR_948751.1:n.597+35214_597+35215insAC | ||
| XR_948752.1:n.316+35214_316+35215insAC | ||
| XR_948753.1:n.503+35214_503+35215insAC | ||
| XR_948754.1:n.502+35214_502+35215insAC | ||
| XR_948755.1:n.501+35214_501+35215insAC | ||
| XR_948756.1:n.501+35214_501+35215insAC | ||
| XR_948757.1:n.501+35214_501+35215insAC | ||
| XR_948758.1:n.501+35214_501+35215insAC | ||
| XR_948759.1:n.501+35214_501+35215insAC | ||
| XR_948761.1:n.521-15931_521-15930insAC | ||
| XR_948762.1:n.501+35214_501+35215insAC | ||
| XR_948764.1:n.502+35214_502+35215insAC | ||
| XR_948765.1:n.501+35214_501+35215insAC | ||
| XR_948766.1:n.502-5231_502-5230insAC | ||
| NM_001317938.1:c.468+35214_468+35215insAC | NP_001304867.1:n.468+35214_468+35215insAC | |
| XM_017009805.1:c.381+35214_381+35215insAC | XP_016865294.1:n.381+35214_381+35215insAC | |
| XM_017009806.2:c.348+35214_348+35215insAC | XP_016865295.1:n.348+35214_348+35215insAC | |
| XM_017009807.1:c.348+35214_348+35215insAC | XP_016865296.1:n.348+35214_348+35215insAC | |
| XM_017009808.1:c.306+35214_306+35215insAC | XP_016865297.1:n.306+35214_306+35215insAC | |
| XM_017009809.2:c.468+35214_468+35215insAC | XP_016865298.1:n.468+35214_468+35215insAC | |
| XM_017009810.2:c.468+35214_468+35215insAC | XP_016865299.1:n.468+35214_468+35215insAC | |
| XM_017009811.2:c.468+35214_468+35215insAC | XP_016865300.1:n.468+35214_468+35215insAC | |
| XM_017009812.2:c.468+35214_468+35215insAC | XP_016865301.1:n.468+35214_468+35215insAC | |
| XM_017009813.2:c.469-5231_469-5230insAC | XP_016865302.1:n.469-5231_469-5230insAC | |
| XM_024446203.1:c.348+35214_348+35215insAC | XP_024301971.1:n.348+35214_348+35215insAC | |
| XR_002956177.1:n.434+35214_434+35215insAC | ||
| XR_948757.3:n.501+35214_501+35215insAC | ||
| NM_001317938.2:c.411+35214_411+35215insAC MANE Select | NP_001304867.2:n.411+35214_411+35215insAC |