Linked Data
ClinVar Variation Id:
6848
ClinVar RCV Id:
RCV000007251
dbSNP Id:
rs587776643
MyVariant Identifiers:
chr7:g.151269750_151269751insTAA (hg19)
chr7:g.151572664_151572665insTAA (hg38)
PubMed:
PMID:11371514
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.151572664_151572665insTAA , CM000669.2:g.151572664_151572665insTAA | GRCh38 |
| NC_000007.13:g.151269750_151269751insTAA , CM000669.1:g.151269750_151269751insTAA | GRCh37 |
| NC_000007.12:g.150900683_150900684insTAA | NCBI36 |
| NG_007486.1:g.309566_309567insTTA | |
| NG_007486.2:g.309567_309568insTTA |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000478989.7:c.324_325insTTA | ENSP00000420645.3:p.Arg108_Glu109insLeu | |
| ENST00000652321.2:c.1047_1048insTTA | ENSP00000498886.2:p.Arg349_Glu350insLeu | |
| ENST00000287878.9:c.1050_1051insTTA MANE Select | ENSP00000287878.3:p.Arg350_Glu351insLeu | |
| ENST00000476632.2:c.327_328insTTA | ENSP00000419493.2:p.Arg109_Glu110insLeu | |
| ENST00000478989.6:c.110_111insTTA | ||
| ENST00000491938.6:n.393_394insTTA | ||
| ENST00000492843.6:c.675_676insTTA | ENSP00000419577.2:p.Arg225_Glu226insLeu | |
| ENST00000650851.1:n.544_545insTTA | ||
| ENST00000650858.1:c.267_268insTTA | ENSP00000498384.1:p.Arg89_Glu90insLeu | |
| ENST00000650948.1:n.1165_1166insTTA | ||
| ENST00000651188.1:c.*290_*291insTTA | ENSP00000498557.1:n.*290_*291insTTA | |
| ENST00000651290.1:n.193_194insTTA | ||
| ENST00000651303.1:c.*369_*370insTTA | ENSP00000498428.1:n.*369_*370insTTA | |
| ENST00000651378.1:c.327_328insTTA | ENSP00000499103.1:p.Arg109_Glu110insLeu | |
| ENST00000651764.1:c.918_919insTTA | ENSP00000498796.1:p.Arg306_Glu307insLeu | |
| ENST00000651836.1:c.818_819insTTA | ENSP00000499156.1:n.818_819insTTA | |
| ENST00000652047.1:c.915_916insTTA | ENSP00000499111.1:p.Arg305_Glu306insLeu | |
| ENST00000652136.1:n.783_784insTTA | ||
| ENST00000652159.1:c.918_919insTTA | ENSP00000499025.1:p.Arg306_Glu307insLeu | |
| ENST00000652397.1:c.327_328insTTA | ENSP00000498351.1:p.Arg109_Glu110insLeu | |
| ENST00000287878.8:c.1050_1051insTTA | ENSP00000287878.3:p.Arg350_Glu351insLeu | |
| ENST00000392801.6:c.918_919insTTA | ENSP00000376549.2:p.Arg306_Glu307insLeu | |
| ENST00000418337.6:c.327_328insTTA | ENSP00000387386.2:p.Arg109_Glu110insLeu | |
| ENST00000476632.1:c.327_328insTTA | ENSP00000419493.1:p.Arg109_Glu110insLeu | |
| ENST00000478989.5:c.102_103insTTA | ENSP00000420645.1:p.Arg34_Glu35insLeu | |
| ENST00000488258.5:c.*290_*291insTTA | ENSP00000420783.1:n.*290_*291insTTA | |
| ENST00000491938.5:n.396_397insTTA | ||
| ENST00000492843.5:c.678_679insTTA | ENSP00000419577.1:p.Arg226_Glu227insLeu | |
| ENST00000493872.5:c.*299_*300insTTA | ENSP00000417252.1:n.*299_*300insTTA | |
| NM_001040633.1:c.918_919insTTA | NP_001035723.1:p.Arg306_Glu307insLeu | |
| NM_001304527.1:c.675_676insTTA | NP_001291456.1:p.Arg225_Glu226insLeu | |
| NM_001304531.1:c.327_328insTTA | NP_001291460.1:p.Arg109_Glu110insLeu | |
| NM_016203.3:c.1050_1051insTTA | NP_057287.2:p.Arg350_Glu351insLeu | |
| NM_024429.1:c.327_328insTTA | NP_077747.1:p.Arg109_Glu110insLeu | |
| XM_005250002.2:c.1050_1051insTTA | XP_005250059.1:p.Arg350_Glu351insLeu | |
| XM_005250004.2:c.918_919insTTA | XP_005250061.1:p.Arg306_Glu307insLeu | |
| XM_005250006.3:c.678_679insTTA | XP_005250063.1:p.Arg226_Glu227insLeu | |
| XM_006716021.2:c.1038_1039insTTA | XP_006716084.1:p.Arg346_Glu347insLeu | |
| XM_011516282.1:c.1035_1036insTTA | XP_011514584.1:p.Arg345_Glu346insLeu | |
| XM_011516283.1:c.1038_1039insTTA | XP_011514585.1:p.Arg346_Glu347insLeu | |
| XM_011516284.1:c.1035_1036insTTA | XP_011514586.1:p.Arg345_Glu346insLeu | |
| XM_011516285.1:c.327_328insTTA | XP_011514587.1:p.Arg109_Glu110insLeu | |
| XM_011516286.1:c.303_304insTTA | XP_011514588.1:p.Arg101_Glu102insLeu | |
| XM_011516287.1:c.267_268insTTA | XP_011514589.1:p.Arg89_Glu90insLeu | |
| NM_001363698.1:c.678_679insTTA | NP_001350627.1:p.Arg226_Glu227insLeu | |
| XM_005250002.4:c.1050_1051insTTA | XP_005250059.1:p.Arg350_Glu351insLeu | |
| XM_005250004.4:c.918_919insTTA | XP_005250061.1:p.Arg306_Glu307insLeu | |
| XM_005250006.5:c.678_679insTTA | XP_005250063.1:p.Arg226_Glu227insLeu | |
| XM_011516285.2:c.327_328insTTA | XP_011514587.1:p.Arg109_Glu110insLeu | |
| XM_011516286.2:c.303_304insTTA | XP_011514588.1:p.Arg101_Glu102insLeu | |
| XM_017012268.2:c.915_916insTTA | XP_016867757.1:p.Arg305_Glu306insLeu | |
| XM_017012269.1:c.1047_1048insTTA | XP_016867758.1:p.Arg349_Glu350insLeu | |
| XM_017012270.1:c.918_919insTTA | XP_016867759.1:p.Arg306_Glu307insLeu | |
| XM_017012271.2:c.915_916insTTA | XP_016867760.1:p.Arg305_Glu306insLeu | |
| XM_017012272.1:c.915_916insTTA | XP_016867761.1:p.Arg305_Glu306insLeu | |
| XM_017012274.2:c.324_325insTTA | XP_016867763.1:p.Arg108_Glu109insLeu | |
| XM_017012275.2:c.267_268insTTA | XP_016867764.1:p.Arg89_Glu90insLeu | |
| XM_017012276.2:c.324_325insTTA | XP_016867765.1:p.Arg108_Glu109insLeu | |
| XM_017012277.2:c.303_304insTTA | XP_016867766.1:p.Arg101_Glu102insLeu | |
| XM_017012278.1:c.267_268insTTA | XP_016867767.1:p.Arg89_Glu90insLeu | |
| XM_017012279.2:c.267_268insTTA | XP_016867768.1:p.Arg89_Glu90insLeu | |
| XM_017012280.2:c.267_268insTTA | XP_016867769.1:p.Arg89_Glu90insLeu | |
| XM_017012281.2:c.267_268insTTA | XP_016867770.1:p.Arg89_Glu90insLeu | |
| XM_024446786.1:c.918_919insTTA | XP_024302554.1:p.Arg306_Glu307insLeu | |
| XM_024446787.1:c.327_328insTTA | XP_024302555.1:p.Arg109_Glu110insLeu | |
| XM_024446788.1:c.324_325insTTA | XP_024302556.1:p.Arg108_Glu109insLeu | |
| XM_024446789.1:c.327_328insTTA | XP_024302557.1:p.Arg109_Glu110insLeu | |
| NM_016203.4:c.1050_1051insTTA MANE Select | NP_057287.2:p.Arg350_Glu351insLeu | |
| NM_001040633.2:c.918_919insTTA | NP_001035723.1:p.Arg306_Glu307insLeu | |
| NM_001304527.2:c.675_676insTTA | NP_001291456.1:p.Arg225_Glu226insLeu | |
| NM_001304531.2:c.327_328insTTA | NP_001291460.1:p.Arg109_Glu110insLeu | |
| NM_001363698.2:c.678_679insTTA | NP_001350627.1:p.Arg226_Glu227insLeu | |
| NM_024429.2:c.327_328insTTA | NP_077747.1:p.Arg109_Glu110insLeu |