Linked Data
dbSNP Id:
rs934775069
gnomAD v2:
7-148508280-C-CCGGA
gnomAD v3:
7-148811188-C-CCGGA
gnomAD v4:
7-148811188-C-CCGGA
MyVariant Identifiers:
chr7:g.148508280_148508281insCGGA (hg19)
chr7:g.148811188_148811189insCGGA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.148811189_148811192dup , CM000669.2:g.148811189_148811192dup | GRCh38 |
| NC_000007.13:g.148508281_148508284dup , CM000669.1:g.148508281_148508284dup | GRCh37 |
| NC_000007.12:g.148139214_148139217dup | NCBI36 |
| NG_032043.1:g.78158_78161dup , LRG_531:g.78158_78161dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682263.1:n.3847+433_3847+436dup | ||
| ENST00000682317.1:c.*1009+433_*1009+436dup | ENSP00000508286.1:n.*1009+433_*1009+436dup | |
| ENST00000683292.1:c.*843+433_*843+436dup | ENSP00000507503.1:n.*843+433_*843+436dup | |
| ENST00000683293.1:n.3666+433_3666+436dup | ||
| ENST00000683744.1:c.*1009+433_*1009+436dup | ENSP00000506949.1:n.*1009+433_*1009+436dup | |
| ENST00000684300.1:c.*1009+433_*1009+436dup | ENSP00000508407.1:n.*1009+433_*1009+436dup | |
| ENST00000684400.1:n.2838+433_2838+436dup | ||
| ENST00000684436.1:n.2263+433_2263+436dup | ||
| ENST00000684510.1:n.2325+433_2325+436dup | ||
| ENST00000320356.7:c.1947+433_1947+436dup MANE Select | ENSP00000320147.2:n.1947+433_1947+436dup | |
| ENST00000320356.6:c.1947+433_1947+436dup | ENSP00000320147.2:n.1947+433_1947+436dup | |
| ENST00000350995.6:c.1815+433_1815+436dup | ENSP00000223193.2:n.1815+433_1815+436dup | |
| ENST00000460911.5:c.1932+433_1932+436dup | ENSP00000419711.1:n.1932+433_1932+436dup | |
| ENST00000469631.1:n.199+433_199+436dup | ||
| ENST00000476773.5:c.1779+433_1779+436dup | ENSP00000419050.1:n.1779+433_1779+436dup | |
| ENST00000478654.5:c.1779+433_1779+436dup | ENSP00000417062.1:n.1779+433_1779+436dup | |
| ENST00000483967.5:c.1905+433_1905+436dup | ENSP00000419856.1:n.1905+433_1905+436dup | |
| ENST00000492143.5:c.*1937+433_*1937+436dup | ENSP00000417377.1:n.*1937+433_*1937+436dup | |
| NM_001203247.1:c.1932+433_1932+436dup | NP_001190176.1:n.1932+433_1932+436dup | |
| NM_001203248.1:c.1905+433_1905+436dup | NP_001190177.1:n.1905+433_1905+436dup | |
| NM_001203249.1:c.1779+433_1779+436dup | NP_001190178.1:n.1779+433_1779+436dup | |
| NM_004456.4:c.1947+433_1947+436dup , LRG_531t1:c.1947+433_1947+436dup | NP_004447.2:n.1947+433_1947+436dup | |
| NM_152998.2:c.1815+433_1815+436dup | NP_694543.1:n.1815+433_1815+436dup | |
| XM_005249962.3:c.1956+433_1956+436dup | XP_005250019.1:n.1956+433_1956+436dup | |
| XM_005249963.3:c.1929+433_1929+436dup | XP_005250020.1:n.1929+433_1929+436dup | |
| XM_005249964.3:c.1803+433_1803+436dup | XP_005250021.1:n.1803+433_1803+436dup | |
| XM_011515883.1:c.1971+433_1971+436dup | XP_011514185.1:n.1971+433_1971+436dup | |
| XM_011515884.1:c.1947+433_1947+436dup | XP_011514186.1:n.1947+433_1947+436dup | |
| XM_011515885.1:c.1944+433_1944+436dup | XP_011514187.1:n.1944+433_1944+436dup | |
| XM_011515886.1:c.1923+433_1923+436dup | XP_011514188.1:n.1923+433_1923+436dup | |
| XM_011515887.1:c.1920+433_1920+436dup | XP_011514189.1:n.1920+433_1920+436dup | |
| XM_011515888.1:c.1920+433_1920+436dup | XP_011514190.1:n.1920+433_1920+436dup | |
| XM_011515889.1:c.1881+433_1881+436dup | XP_011514191.1:n.1881+433_1881+436dup | |
| XM_011515890.1:c.1854+433_1854+436dup | XP_011514192.1:n.1854+433_1854+436dup | |
| XM_011515891.1:c.1848+433_1848+436dup | XP_011514193.1:n.1848+433_1848+436dup | |
| XM_011515892.1:c.1845+433_1845+436dup | XP_011514194.1:n.1845+433_1845+436dup | |
| XM_011515893.1:c.1839+433_1839+436dup | XP_011514195.1:n.1839+433_1839+436dup | |
| XM_011515894.1:c.1830+433_1830+436dup | XP_011514196.1:n.1830+433_1830+436dup | |
| XM_011515895.1:c.1827+433_1827+436dup | XP_011514197.1:n.1827+433_1827+436dup | |
| XM_011515896.1:c.1713+433_1713+436dup | XP_011514198.1:n.1713+433_1713+436dup | |
| XM_011515897.1:c.1620+433_1620+436dup | XP_011514199.1:n.1620+433_1620+436dup | |
| XM_011515898.1:c.1620+433_1620+436dup | XP_011514200.1:n.1620+433_1620+436dup | |
| XR_928101.1:n.515+6104_515+6107dup | ||
| XR_928102.1:n.722+6104_722+6107dup | ||
| XM_005249962.4:c.1956+433_1956+436dup | XP_005250019.1:n.1956+433_1956+436dup | |
| XM_005249963.4:c.1929+433_1929+436dup | XP_005250020.1:n.1929+433_1929+436dup | |
| XM_005249964.4:c.1803+433_1803+436dup | XP_005250021.1:n.1803+433_1803+436dup | |
| XM_011515883.2:c.1971+433_1971+436dup | XP_011514185.1:n.1971+433_1971+436dup | |
| XM_011515884.2:c.1947+433_1947+436dup | XP_011514186.1:n.1947+433_1947+436dup | |
| XM_011515885.2:c.1944+433_1944+436dup | XP_011514187.1:n.1944+433_1944+436dup | |
| XM_011515886.2:c.1923+433_1923+436dup | XP_011514188.1:n.1923+433_1923+436dup | |
| XM_011515887.3:c.1920+433_1920+436dup | XP_011514189.1:n.1920+433_1920+436dup | |
| XM_011515888.2:c.1920+433_1920+436dup | XP_011514190.1:n.1920+433_1920+436dup | |
| XM_011515889.2:c.1881+433_1881+436dup | XP_011514191.1:n.1881+433_1881+436dup | |
| XM_011515890.2:c.1854+433_1854+436dup | XP_011514192.1:n.1854+433_1854+436dup | |
| XM_011515891.3:c.1848+433_1848+436dup | XP_011514193.1:n.1848+433_1848+436dup | |
| XM_011515892.2:c.1845+433_1845+436dup | XP_011514194.1:n.1845+433_1845+436dup | |
| XM_011515893.2:c.1839+433_1839+436dup | XP_011514195.1:n.1839+433_1839+436dup | |
| XM_011515894.2:c.1830+433_1830+436dup | XP_011514196.1:n.1830+433_1830+436dup | |
| XM_011515895.2:c.1827+433_1827+436dup | XP_011514197.1:n.1827+433_1827+436dup | |
| XM_011515896.2:c.1713+433_1713+436dup | XP_011514198.1:n.1713+433_1713+436dup | |
| XM_011515897.2:c.1620+433_1620+436dup | XP_011514199.1:n.1620+433_1620+436dup | |
| XM_011515898.2:c.1620+433_1620+436dup | XP_011514200.1:n.1620+433_1620+436dup | |
| XM_017011817.2:c.1971+433_1971+436dup | XP_016867306.1:n.1971+433_1971+436dup | |
| XM_017011818.1:c.1908+433_1908+436dup | XP_016867307.1:n.1908+433_1908+436dup | |
| XM_017011819.1:c.1830+433_1830+436dup | XP_016867308.1:n.1830+433_1830+436dup | |
| XM_017011820.2:c.1803+433_1803+436dup | XP_016867309.1:n.1803+433_1803+436dup | |
| XM_017011821.1:c.1605+433_1605+436dup | XP_016867310.1:n.1605+433_1605+436dup | |
| XM_024446680.1:c.1833+433_1833+436dup | XP_024302448.1:n.1833+433_1833+436dup | |
| XR_001744581.1:n.4321+433_4321+436dup | ||
| XR_002956413.1:n.4977+433_4977+436dup | ||
| XR_002956414.1:n.5437+433_5437+436dup | ||
| NM_001203247.2:c.1932+433_1932+436dup | NP_001190176.1:n.1932+433_1932+436dup | |
| NM_001203248.2:c.1905+433_1905+436dup | NP_001190177.1:n.1905+433_1905+436dup | |
| NM_001203249.2:c.1779+433_1779+436dup | NP_001190178.1:n.1779+433_1779+436dup | |
| NM_004456.5:c.1947+433_1947+436dup MANE Select | NP_004447.2:n.1947+433_1947+436dup | |
| NM_152998.3:c.1815+433_1815+436dup | NP_694543.1:n.1815+433_1815+436dup |