Canonical Allele Identifier: CA1139662445
Community Standard Title: NM_018979.4(WNK1):c.2140-2217_2140-2210del
Gene: WNK1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.869048_869055del , CM000674.2:g.869048_869055del GRCh38
NC_000012.11:g.978214_978221del , CM000674.1:g.978214_978221del GRCh37
NC_000012.10:g.848475_848482del NCBI36
NG_007984.2:g.120990_120997del
NG_007984.3:g.120990_120997del

Transcript Alleles

HGVS Amino-acid Change
NM_018979.4:c.2140-2217_2140-2210del MANE Select NP_061852.3:n.2140-2217_2140-2210del
ENST00000315939.11:c.2140-2217_2140-2210del MANE Select ENSP00000313059.6:n.2140-2217_2140-2210del
NM_213655.5:c.3577_3584del MANE Plus Clinical NP_998820.3:p.Ser1193GlyfsTer29
ENST00000340908.9:c.3577_3584del MANE Plus Clinical ENSP00000341292.5:p.Ser1193GlyfsTer29
NM_001184985.1:c.3322_3329del NP_001171914.1:p.Ser1108GlyfsTer29
NM_001184985.2:c.3322_3329del NP_001171914.1:p.Ser1108GlyfsTer29
NM_014823.2:c.2140-2217_2140-2210del NP_055638.2:n.2140-2217_2140-2210del
NM_014823.3:c.2140-2217_2140-2210del NP_055638.2:n.2140-2217_2140-2210del
NM_018979.3:c.2140-2217_2140-2210del NP_061852.3:n.2140-2217_2140-2210del
NM_213655.4:c.3577_3584del NP_998820.3:p.Ser1193GlyfsTer29
ENST00000315939.10:c.2140-2217_2140-2210del ENSP00000313059.6:n.2140-2217_2140-2210del
ENST00000340908.8:c.3577_3584del ENSP00000341292.5:p.Ser1193GlyfsTer29
ENST00000530271.6:c.3322_3329del ENSP00000433548.3:p.Ser1108GlyfsTer29
ENST00000535572.5:c.2140-2217_2140-2210del ENSP00000441972.1:n.2140-2217_2140-2210del
ENST00000535698.1:c.36+6778_36+6785del ENSP00000439552.1:n.36+6778_36+6785del
ENST00000537687.5:c.3322_3329del ENSP00000444465.1:p.Ser1108GlyfsTer29
ENST00000544965.5:c.190+6778_190+6785del
ENST00000545285.5:c.98-2217_98-2210del
ENST00000574564.1:c.1219_1226del ENSP00000460651.1:p.Ser407GlyfsTer?
ENST00000574679.1:c.481_488del ENSP00000459380.1:p.Ser161GlyfsTer29
ENST00000674810.1:n.523_530del
ENST00000675631.1:c.919-2217_919-2210del ENSP00000502415.1:n.919-2217_919-2210del
ENST00000676347.1:c.408+6778_408+6785del ENSP00000501875.1:n.408+6778_408+6785del
XM_006719003.1:c.2140-2217_2140-2210del XP_006719066.1:n.2140-2217_2140-2210del
XM_006719003.2:c.2140-2217_2140-2210del XP_006719066.1:n.2140-2217_2140-2210del
XM_011520997.1:c.3322_3329del XP_011519299.1:p.Ser1108GlyfsTer29
XM_011520997.3:c.3322_3329del XP_011519299.1:p.Ser1108GlyfsTer29
XM_011520998.1:c.3322_3329del XP_011519300.1:p.Ser1108GlyfsTer29
XM_011520998.2:c.3322_3329del XP_011519300.1:p.Ser1108GlyfsTer29
XM_011520999.1:c.3322_3329del XP_011519301.1:p.Ser1108GlyfsTer29
XM_011520999.2:c.3322_3329del XP_011519301.1:p.Ser1108GlyfsTer29
XM_011521000.1:c.3322_3329del XP_011519302.1:p.Ser1108GlyfsTer29
XM_011521000.2:c.3322_3329del XP_011519302.1:p.Ser1108GlyfsTer29
XM_011521001.1:c.3322_3329del XP_011519303.1:p.Ser1108GlyfsTer29
XM_011521001.2:c.3322_3329del XP_011519303.1:p.Ser1108GlyfsTer29
XM_011521002.1:c.3322_3329del XP_011519304.1:p.Ser1108GlyfsTer29
XM_011521002.2:c.3322_3329del XP_011519304.1:p.Ser1108GlyfsTer29
XM_011521003.1:c.3322_3329del XP_011519305.1:p.Ser1108GlyfsTer29
XM_011521003.2:c.3322_3329del XP_011519305.1:p.Ser1108GlyfsTer29
XM_011521004.1:c.3322_3329del XP_011519306.1:p.Ser1108GlyfsTer29
XM_011521004.2:c.3322_3329del XP_011519306.1:p.Ser1108GlyfsTer29
XM_011521005.1:c.2101_2108del XP_011519307.1:p.Ser701GlyfsTer29
XM_011521005.2:c.2101_2108del XP_011519307.1:p.Ser701GlyfsTer29
XM_011521006.1:c.2139+6778_2139+6785del XP_011519308.1:n.2139+6778_2139+6785del
XM_011521006.2:c.2139+6778_2139+6785del XP_011519308.1:n.2139+6778_2139+6785del
XM_011521007.1:c.2139+6778_2139+6785del XP_011519309.1:n.2139+6778_2139+6785del
XM_011521007.2:c.2139+6778_2139+6785del XP_011519309.1:n.2139+6778_2139+6785del
XM_011521008.1:c.2139+6778_2139+6785del XP_011519310.1:n.2139+6778_2139+6785del
XM_011521008.2:c.2139+6778_2139+6785del XP_011519310.1:n.2139+6778_2139+6785del
XM_011521009.1:c.2139+6778_2139+6785del XP_011519311.1:n.2139+6778_2139+6785del
XM_011521009.2:c.2139+6778_2139+6785del XP_011519311.1:n.2139+6778_2139+6785del
XM_017019834.1:c.2140-2217_2140-2210del XP_016875323.1:n.2140-2217_2140-2210del
XM_017019835.1:c.2139+6778_2139+6785del XP_016875324.1:n.2139+6778_2139+6785del
XM_017019836.1:c.2139+6778_2139+6785del XP_016875325.1:n.2139+6778_2139+6785del
XM_017019837.1:c.2140-2217_2140-2210del XP_016875326.1:n.2140-2217_2140-2210del
XM_017019838.1:c.2140-2217_2140-2210del XP_016875327.1:n.2140-2217_2140-2210del
XM_017019839.1:c.2139+6778_2139+6785del XP_016875328.1:n.2139+6778_2139+6785del