Canonical Allele Identifier: CA2843976528
Gene: ASAH1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.18061434_18061437del , CM000670.2:g.18061434_18061437del GRCh38
NC_000008.10:g.17918943_17918946del , CM000670.1:g.17918943_17918946del GRCh37
NC_000008.9:g.17963223_17963226del NCBI36
NG_008985.1:g.28568_28571del
NG_008985.2:g.28568_28571del

Transcript Alleles

HGVS Amino-acid Change
ENST00000381733.9:c.779_782del ENSP00000371152.4:p.Lys260MetfsTer5
ENST00000517409.2:n.699_702del
ENST00000518746.2:n.2417_2420del
ENST00000519545.6:n.748_751del
ENST00000520781.6:c.656_659del ENSP00000427751.1:p.Lys219MetfsTer5
ENST00000521542.2:n.39_42del
ENST00000635756.1:c.144_147del
ENST00000635944.1:c.*567_*570del ENSP00000490195.1:n.*567_*570del
ENST00000635998.1:c.731_734del ENSP00000490506.1:p.Lys244MetfsTer5
ENST00000636009.1:c.588_591del ENSP00000489988.1:n.588_591del
ENST00000636033.1:c.*567_*570del ENSP00000489617.1:n.*567_*570del
ENST00000636050.1:c.*574_*577del ENSP00000490562.1:n.*574_*577del
ENST00000636128.1:c.410_413del ENSP00000489789.1:p.Lys137MetfsTer5
ENST00000636160.1:c.*623_*626del ENSP00000489651.1:n.*623_*626del
ENST00000636171.1:c.674_677del ENSP00000489761.1:p.Lys225MetfsTer5
ENST00000636455.1:c.779_782del ENSP00000490502.1:p.Lys260MetfsTer5
ENST00000636494.1:c.*511_*514del ENSP00000490388.1:n.*511_*514del
ENST00000636563.1:n.393_396del
ENST00000636577.1:c.671_674del ENSP00000490027.1:p.Lys224MetfsTer5
ENST00000636691.1:c.536_539del ENSP00000490725.1:p.Lys179MetfsTer5
ENST00000636701.1:c.*382_*385del ENSP00000489800.1:n.*382_*385del
ENST00000636815.1:c.648_651del
ENST00000636920.1:c.*567_*570del ENSP00000490437.1:n.*567_*570del
ENST00000636997.1:c.644_647del ENSP00000490093.1:p.Lys215MetfsTer5
ENST00000637013.1:c.*1099_*1102del ENSP00000490596.1:n.*1099_*1102del
ENST00000637014.1:n.1138_1141del
ENST00000637095.1:c.*511_*514del ENSP00000490415.1:n.*511_*514del
ENST00000637244.1:c.*1249_*1252del ENSP00000490188.1:n.*1249_*1252del
ENST00000637343.1:n.2168_2171del
ENST00000637429.1:c.*943_*946del ENSP00000490522.1:n.*943_*946del
ENST00000637484.1:c.*693_*696del ENSP00000490837.1:n.*693_*696del
ENST00000637528.1:c.668_671del ENSP00000490801.1:p.Lys223MetfsTer5
ENST00000637609.1:n.3452_3455del
ENST00000637636.1:c.725_728del ENSP00000490112.1:p.Lys242MetfsTer5
ENST00000637790.2:c.731_734del MANE Select ENSP00000490272.1:p.Lys244MetfsTer5
ENST00000637857.1:n.1097_1100del
ENST00000637922.1:c.536_539del ENSP00000490071.1:p.Lys179MetfsTer5
ENST00000637991.1:c.704_707del ENSP00000489901.1:p.Lys235MetfsTer5
ENST00000638028.1:n.948_951del
ENST00000638069.1:n.1552_1555del
ENST00000262097.10:c.731_734del ENSP00000262097.6:p.Lys244MetfsTer5
ENST00000314146.10:c.713_716del ENSP00000326970.10:p.Lys238MetfsTer5
ENST00000381733.8:c.779_782del ENSP00000371152.4:p.Lys260MetfsTer5
ENST00000518746.1:n.548_551del
ENST00000519468.5:n.560_563del
ENST00000520781.5:c.656_659del ENSP00000427751.1:p.Lys219MetfsTer5
ENST00000521542.1:n.444_447del
NM_001127505.1:c.713_716del NP_001120977.1:p.Lys238MetfsTer5
NM_001127505.2:c.713_716del NP_001120977.1:p.Lys238MetfsTer5
NM_004315.4:c.779_782del NP_004306.3:p.Lys260MetfsTer5
NM_004315.5:c.779_782del NP_004306.3:p.Lys260MetfsTer5
NM_177924.3:c.731_734del NP_808592.2:p.Lys244MetfsTer5
NM_177924.4:c.731_734del NP_808592.2:p.Lys244MetfsTer5
XM_005273504.2:c.665_668del XP_005273561.1:p.Lys222MetfsTer5
NM_001363743.1:c.536_539del NP_001350672.1:p.Lys179MetfsTer5
XM_005273504.3:c.665_668del XP_005273561.1:p.Lys222MetfsTer5
NM_177924.5:c.731_734del MANE Select NP_808592.2:p.Lys244MetfsTer5
NM_001127505.3:c.713_716del NP_001120977.1:p.Lys238MetfsTer5
NM_001363743.2:c.536_539del NP_001350672.1:p.Lys179MetfsTer5
NM_004315.6:c.779_782del NP_004306.3:p.Lys260MetfsTer5