Linked Data
ClinVar Variation Id:
260697
dbSNP Id:
rs35348247
ExAC:
7:151292395 A / AT
gnomAD v2:
7-151292395-A-AT
gnomAD v3:
7-151595309-A-AT
gnomAD v4:
7-151595309-A-AT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.151595309_151595310insT , CM000669.2:g.151595309_151595310insT | GRCh38 |
| NC_000007.13:g.151292395_151292396insT , CM000669.1:g.151292395_151292396insT | GRCh37 |
| NC_000007.12:g.150923328_150923329insT | NCBI36 |
| NG_007486.1:g.286921_286922insA | |
| NG_007486.2:g.286922_286923insA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000478989.7:c.138+35_138+36insA | ENSP00000420645.3:n.138+35_138+36insA | |
| ENST00000652321.2:c.861+35_861+36insA | ENSP00000498886.2:n.861+35_861+36insA | |
| ENST00000287878.9:c.864+35_864+36insA MANE Select | ENSP00000287878.3:n.864+35_864+36insA | |
| ENST00000476632.2:c.141+35_141+36insA | ENSP00000419493.2:n.141+35_141+36insA | |
| ENST00000491938.6:n.207+35_207+36insA | ||
| ENST00000492843.6:c.489+35_489+36insA | ENSP00000419577.2:n.489+35_489+36insA | |
| ENST00000650851.1:n.358+35_358+36insA | ||
| ENST00000650858.1:c.81+35_81+36insA | ENSP00000498384.1:n.81+35_81+36insA | |
| ENST00000650948.1:n.979+35_979+36insA | ||
| ENST00000651188.1:c.*104+35_*104+36insA | ENSP00000498557.1:n.*104+35_*104+36insA | |
| ENST00000651290.1:n.66+35_66+36insA | ||
| ENST00000651303.1:c.*183+35_*183+36insA | ENSP00000498428.1:n.*183+35_*183+36insA | |
| ENST00000651378.1:c.141+35_141+36insA | ENSP00000499103.1:n.141+35_141+36insA | |
| ENST00000651764.1:c.732+35_732+36insA | ENSP00000498796.1:n.732+35_732+36insA | |
| ENST00000651836.1:c.632+35_632+36insA | ENSP00000499156.1:n.632+35_632+36insA | |
| ENST00000652047.1:c.729+35_729+36insA | ENSP00000499111.1:n.729+35_729+36insA | |
| ENST00000652136.1:n.597+35_597+36insA | ||
| ENST00000652159.1:c.732+35_732+36insA | ENSP00000499025.1:n.732+35_732+36insA | |
| ENST00000652397.1:c.141+35_141+36insA | ENSP00000498351.1:n.141+35_141+36insA | |
| ENST00000652572.1:n.245+35_245+36insA | ||
| ENST00000652707.1:c.767_768insA | ENSP00000498954.1:p.Trp258LeufsTer9 | |
| ENST00000287878.8:c.864+35_864+36insA | ENSP00000287878.3:n.864+35_864+36insA | |
| ENST00000392801.6:c.732+35_732+36insA | ENSP00000376549.2:n.732+35_732+36insA | |
| ENST00000418337.6:c.141+35_141+36insA | ENSP00000387386.2:n.141+35_141+36insA | |
| ENST00000476632.1:c.141+35_141+36insA | ENSP00000419493.1:n.141+35_141+36insA | |
| ENST00000483775.1:n.269+35_269+36insA | ||
| ENST00000488258.5:c.*104+35_*104+36insA | ENSP00000420783.1:n.*104+35_*104+36insA | |
| ENST00000491938.5:n.210+35_210+36insA | ||
| ENST00000492843.5:c.492+35_492+36insA | ENSP00000419577.1:n.492+35_492+36insA | |
| ENST00000493872.5:c.*113+35_*113+36insA | ENSP00000417252.1:n.*113+35_*113+36insA | |
| NM_001040633.1:c.732+35_732+36insA | NP_001035723.1:n.732+35_732+36insA | |
| NM_001304527.1:c.489+35_489+36insA | NP_001291456.1:n.489+35_489+36insA | |
| NM_001304531.1:c.141+35_141+36insA | NP_001291460.1:n.141+35_141+36insA | |
| NM_016203.3:c.864+35_864+36insA | NP_057287.2:n.864+35_864+36insA | |
| NM_024429.1:c.141+35_141+36insA | NP_077747.1:n.141+35_141+36insA | |
| XM_005250002.2:c.864+35_864+36insA | XP_005250059.1:n.864+35_864+36insA | |
| XM_005250004.2:c.732+35_732+36insA | XP_005250061.1:n.732+35_732+36insA | |
| XM_005250006.3:c.492+35_492+36insA | XP_005250063.1:n.492+35_492+36insA | |
| XM_006716021.2:c.852+35_852+36insA | XP_006716084.1:n.852+35_852+36insA | |
| XM_011516282.1:c.849+35_849+36insA | XP_011514584.1:n.849+35_849+36insA | |
| XM_011516283.1:c.852+35_852+36insA | XP_011514585.1:n.852+35_852+36insA | |
| XM_011516284.1:c.849+35_849+36insA | XP_011514586.1:n.849+35_849+36insA | |
| XM_011516285.1:c.141+35_141+36insA | XP_011514587.1:n.141+35_141+36insA | |
| XM_011516286.1:c.117+35_117+36insA | XP_011514588.1:n.117+35_117+36insA | |
| XM_011516287.1:c.81+35_81+36insA | XP_011514589.1:n.81+35_81+36insA | |
| NM_001363698.1:c.492+35_492+36insA | NP_001350627.1:n.492+35_492+36insA | |
| XM_005250002.4:c.864+35_864+36insA | XP_005250059.1:n.864+35_864+36insA | |
| XM_005250004.4:c.732+35_732+36insA | XP_005250061.1:n.732+35_732+36insA | |
| XM_005250006.5:c.492+35_492+36insA | XP_005250063.1:n.492+35_492+36insA | |
| XM_011516285.2:c.141+35_141+36insA | XP_011514587.1:n.141+35_141+36insA | |
| XM_011516286.2:c.117+35_117+36insA | XP_011514588.1:n.117+35_117+36insA | |
| XM_017012268.2:c.729+35_729+36insA | XP_016867757.1:n.729+35_729+36insA | |
| XM_017012269.1:c.861+35_861+36insA | XP_016867758.1:n.861+35_861+36insA | |
| XM_017012270.1:c.732+35_732+36insA | XP_016867759.1:n.732+35_732+36insA | |
| XM_017012271.2:c.729+35_729+36insA | XP_016867760.1:n.729+35_729+36insA | |
| XM_017012272.1:c.729+35_729+36insA | XP_016867761.1:n.729+35_729+36insA | |
| XM_017012274.2:c.138+35_138+36insA | XP_016867763.1:n.138+35_138+36insA | |
| XM_017012275.2:c.81+35_81+36insA | XP_016867764.1:n.81+35_81+36insA | |
| XM_017012276.2:c.138+35_138+36insA | XP_016867765.1:n.138+35_138+36insA | |
| XM_017012277.2:c.117+35_117+36insA | XP_016867766.1:n.117+35_117+36insA | |
| XM_017012278.1:c.81+35_81+36insA | XP_016867767.1:n.81+35_81+36insA | |
| XM_017012279.2:c.81+35_81+36insA | XP_016867768.1:n.81+35_81+36insA | |
| XM_017012280.2:c.81+35_81+36insA | XP_016867769.1:n.81+35_81+36insA | |
| XM_017012281.2:c.81+35_81+36insA | XP_016867770.1:n.81+35_81+36insA | |
| XM_024446786.1:c.732+35_732+36insA | XP_024302554.1:n.732+35_732+36insA | |
| XM_024446787.1:c.141+35_141+36insA | XP_024302555.1:n.141+35_141+36insA | |
| XM_024446788.1:c.138+35_138+36insA | XP_024302556.1:n.138+35_138+36insA | |
| XM_024446789.1:c.141+35_141+36insA | XP_024302557.1:n.141+35_141+36insA | |
| NM_016203.4:c.864+35_864+36insA MANE Select | NP_057287.2:n.864+35_864+36insA | |
| NM_001040633.2:c.732+35_732+36insA | NP_001035723.1:n.732+35_732+36insA | |
| NM_001304527.2:c.489+35_489+36insA | NP_001291456.1:n.489+35_489+36insA | |
| NM_001304531.2:c.141+35_141+36insA | NP_001291460.1:n.141+35_141+36insA | |
| NM_001363698.2:c.492+35_492+36insA | NP_001350627.1:n.492+35_492+36insA | |
| NM_024429.2:c.141+35_141+36insA | NP_077747.1:n.141+35_141+36insA |