ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.229767650_229767663dup , CM000664.2:g.229767650_229767663dup | GRCh38 |
| NC_000002.11:g.230632366_230632379dup , CM000664.1:g.230632366_230632379dup | GRCh37 |
| NC_000002.10:g.230340610_230340623dup | NCBI36 |
| NG_053017.1:g.160573_160586dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000430954.6:c.5919_5932dup | ENSP00000389827.2:p.Tyr1978Ter | |
| ENST00000453485.2:c.5928_5941dup | ENSP00000400967.2:p.Tyr1981Ter | |
| ENST00000704577.1:c.6096_6109dup | ENSP00000515952.1:p.Tyr2037Ter | |
| ENST00000704578.1:c.5955_5968dup | ENSP00000515953.1:p.Tyr1990Ter | |
| ENST00000704579.1:c.*4260_*4273dup | ENSP00000515954.1:n.*4260_*4273dup | |
| ENST00000704580.1:c.5970_5983dup | ENSP00000515955.1:p.Tyr1995Ter | |
| ENST00000704581.1:c.6084_6097dup | ENSP00000515956.1:p.Tyr2033Ter | |
| ENST00000704582.1:c.1750_1763dup | ||
| ENST00000704583.1:c.*3580_*3593dup | ENSP00000515958.1:n.*3580_*3593dup | |
| ENST00000704584.1:c.5988_6001dup | ||
| ENST00000704585.1:c.5874_5887dup | ENSP00000515960.1:p.Tyr1963Ter | |
| ENST00000675423.1:c.6096_6109dup | ENSP00000502768.1:p.Tyr2037Ter | |
| ENST00000675453.1:c.6099_6112dup | ENSP00000502271.1:p.Tyr2038Ter | |
| ENST00000675903.1:c.6096_6109dup MANE Select | ENSP00000502713.1:p.Tyr2037Ter | |
| ENST00000283943.9:c.5871_5884dup | ENSP00000283943.4:p.Tyr1962Ter | |
| ENST00000389044.8:c.6015_6028dup | ENSP00000373696.4:p.Tyr2010Ter | |
| ENST00000389045.7:c.5061_5074dup | ENSP00000373697.3:p.Tyr1692Ter | |
| NM_001284214.1:c.6015_6028dup | NP_001271143.1:p.Tyr2010Ter | |
| NM_001284215.1:c.5970_5983dup | NP_001271144.1:p.Tyr1995Ter | |
| NM_001284216.1:c.5061_5074dup | NP_001271145.1:p.Tyr1692Ter | |
| NM_004238.2:c.5871_5884dup | NP_004229.1:p.Tyr1962Ter | |
| XM_005246954.3:c.6099_6112dup | XP_005247011.1:p.Tyr2038Ter | |
| XM_005246955.3:c.6099_6112dup | XP_005247012.1:p.Tyr2038Ter | |
| XM_005246956.3:c.6096_6109dup | XP_005247013.1:p.Tyr2037Ter | |
| XM_005246957.3:c.6084_6097dup | XP_005247014.1:p.Tyr2033Ter | |
| XM_005246958.3:c.6018_6031dup | XP_005247015.1:p.Tyr2011Ter | |
| XM_005246960.3:c.6012_6025dup | XP_005247017.1:p.Tyr2009Ter | |
| XM_005246961.2:c.5973_5986dup | XP_005247018.1:p.Tyr1996Ter | |
| XM_005246962.3:c.5970_5983dup | XP_005247019.1:p.Tyr1995Ter | |
| XM_005246963.3:c.5934_5947dup | XP_005247020.1:p.Tyr1983Ter | |
| XM_006712852.2:c.5973_5986dup | XP_006712915.1:p.Tyr1996Ter | |
| XM_006712853.2:c.5889_5902dup | XP_006712916.1:p.Tyr1968Ter | |
| XM_011512180.1:c.6099_6112dup | XP_011510482.1:p.Tyr2038Ter | |
| XM_011512181.1:c.6099_6112dup | XP_011510483.1:p.Tyr2038Ter | |
| XM_011512182.1:c.5985_5998dup | XP_011510484.1:p.Tyr2000Ter | |
| XM_011512183.1:c.5973_5986dup | XP_011510485.1:p.Tyr1996Ter | |
| NM_001284215.2:c.5970_5983dup | NP_001271144.1:p.Tyr1995Ter | |
| NM_001348315.1:c.6015_6028dup | NP_001335244.1:p.Tyr2010Ter | |
| NM_001348316.1:c.5970_5983dup | NP_001335245.1:p.Tyr1995Ter | |
| NM_001348317.1:c.5955_5968dup | NP_001335246.1:p.Tyr1990Ter | |
| NM_001348318.1:c.5955_5968dup | NP_001335247.1:p.Tyr1990Ter | |
| NM_001348319.1:c.6081_6094dup | NP_001335248.1:p.Tyr2032Ter | |
| NM_001348320.1:c.6081_6094dup | NP_001335249.1:p.Tyr2032Ter | |
| NM_001348321.1:c.6084_6097dup | NP_001335250.1:p.Tyr2033Ter | |
| NM_001348322.1:c.6096_6109dup | NP_001335251.1:p.Tyr2037Ter | |
| NM_001348323.1:c.6096_6109dup | NP_001335252.1:p.Tyr2037Ter | |
| NM_001348324.1:c.6096_6109dup | NP_001335253.1:p.Tyr2037Ter | |
| NM_001348325.1:c.6096_6109dup | NP_001335254.1:p.Tyr2037Ter | |
| NM_001348326.1:c.6096_6109dup | NP_001335255.1:p.Tyr2037Ter | |
| NM_001348327.1:c.6096_6109dup | NP_001335256.1:p.Tyr2037Ter | |
| NM_001348328.1:c.6099_6112dup | NP_001335257.1:p.Tyr2038Ter | |
| NM_001348329.1:c.6099_6112dup | NP_001335258.1:p.Tyr2038Ter | |
| NM_001348330.1:c.6099_6112dup | NP_001335259.1:p.Tyr2038Ter | |
| NM_001348331.1:c.5874_5887dup | NP_001335260.1:p.Tyr1963Ter | |
| NM_001348332.1:c.5994_6007dup | NP_001335261.1:p.Tyr2003Ter | |
| NM_001348333.1:c.6018_6031dup | NP_001335262.1:p.Tyr2011Ter | |
| XM_005246961.4:c.5973_5986dup | XP_005247018.1:p.Tyr1996Ter | |
| XM_017005283.2:c.6000_6013dup | XP_016860772.1:p.Tyr2005Ter | |
| XM_017005289.2:c.5931_5944dup | XP_016860778.1:p.Tyr1982Ter | |
| XM_017005290.2:c.5928_5941dup | XP_016860779.1:p.Tyr1981Ter | |
| XM_024453223.1:c.6171_6184dup | XP_024308991.1:p.Tyr2062Ter | |
| XM_024453224.1:c.6171_6184dup | XP_024308992.1:p.Tyr2062Ter | |
| XM_024453225.1:c.6171_6184dup | XP_024308993.1:p.Tyr2062Ter | |
| XM_024453226.1:c.6171_6184dup | XP_024308994.1:p.Tyr2062Ter | |
| XM_024453227.1:c.6171_6184dup | XP_024308995.1:p.Tyr2062Ter | |
| XM_024453228.1:c.6171_6184dup | XP_024308996.1:p.Tyr2062Ter | |
| XM_024453229.1:c.6168_6181dup | XP_024308997.1:p.Tyr2061Ter | |
| XM_024453230.1:c.6168_6181dup | XP_024308998.1:p.Tyr2061Ter | |
| XM_024453231.1:c.6090_6103dup | XP_024308999.1:p.Tyr2035Ter | |
| XM_024453232.1:c.6087_6100dup | XP_024309000.1:p.Tyr2034Ter | |
| XM_024453233.1:c.6084_6097dup | XP_024309001.1:p.Tyr2033Ter | |
| XM_024453234.1:c.6084_6097dup | XP_024309002.1:p.Tyr2033Ter | |
| XM_024453235.1:c.6084_6097dup | XP_024309003.1:p.Tyr2033Ter | |
| XM_024453236.1:c.6045_6058dup | XP_024309004.1:p.Tyr2020Ter | |
| XM_024453237.1:c.6045_6058dup | XP_024309005.1:p.Tyr2020Ter | |
| XM_024453238.1:c.6045_6058dup | XP_024309006.1:p.Tyr2020Ter | |
| XM_024453239.1:c.6045_6058dup | XP_024309007.1:p.Tyr2020Ter | |
| XM_024453240.1:c.6045_6058dup | XP_024309008.1:p.Tyr2020Ter | |
| XM_024453241.1:c.6042_6055dup | XP_024309009.1:p.Tyr2019Ter | |
| XM_024453242.1:c.5958_5971dup | XP_024309010.1:p.Tyr1991Ter | |
| XM_024453243.1:c.5889_5902dup | XP_024309011.1:p.Tyr1968Ter | |
| NM_001284214.2:c.6015_6028dup | NP_001271143.1:p.Tyr2010Ter | |
| NM_001284216.2:c.5061_5074dup | NP_001271145.1:p.Tyr1692Ter | |
| NM_001348315.2:c.6015_6028dup | NP_001335244.1:p.Tyr2010Ter | |
| NM_001348316.2:c.5970_5983dup | NP_001335245.1:p.Tyr1995Ter | |
| NM_001348318.2:c.5955_5968dup | NP_001335247.1:p.Tyr1990Ter | |
| NM_001348320.2:c.6081_6094dup | NP_001335249.1:p.Tyr2032Ter | |
| NM_001348323.2:c.6096_6109dup | NP_001335252.1:p.Tyr2037Ter | |
| NM_001348324.2:c.6096_6109dup | NP_001335253.1:p.Tyr2037Ter | |
| NM_001348325.2:c.6096_6109dup | NP_001335254.1:p.Tyr2037Ter | |
| NM_001348326.2:c.6096_6109dup | NP_001335255.1:p.Tyr2037Ter | |
| NM_001348327.2:c.6096_6109dup | NP_001335256.1:p.Tyr2037Ter | |
| NM_001348329.2:c.6099_6112dup | NP_001335258.1:p.Tyr2038Ter | |
| NM_001348330.2:c.6099_6112dup | NP_001335259.1:p.Tyr2038Ter | |
| NM_004238.3:c.5871_5884dup | NP_004229.1:p.Tyr1962Ter | |
| NM_001348323.3:c.6096_6109dup MANE Select | NP_001335252.1:p.Tyr2037Ter |