Canonical Allele Identifier: CA1111403198
Gene: ASAH1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.18061425_18061426insTCTTTCTTTCCCAGAATCCATTCTAGAATACCATGAGGAACCCTATCCACATGG , CM000670.2:g.18061425_18061426insTCTTTCTTTCCCAGAATCCATTCTAGAATACCATGAGGAACCCTATCCACATGG GRCh38
NC_000008.10:g.17918934_17918935insTCTTTCTTTCCCAGAATCCATTCTAGAATACCATGAGGAACCCTATCCACATGG , CM000670.1:g.17918934_17918935insTCTTTCTTTCCCAGAATCCATTCTAGAATACCATGAGGAACCCTATCCACATGG GRCh37
NC_000008.9:g.17963214_17963215insTCTTTCTTTCCCAGAATCCATTCTAGAATACCATGAGGAACCCTATCCACATGG NCBI36
NG_008985.1:g.28573_28574insCCATGTGGATAGGGTTCCTCATGGTATTCTAGAATGGATTCTGGGAAAGAAAGA
NG_008985.2:g.28573_28574insCCATGTGGATAGGGTTCCTCATGGTATTCTAGAATGGATTCTGGGAAAGAAAGA

Transcript Alleles

HGVS Amino-acid change
ENST00000381733.9:c.784_785insCCATGTGGATAGGGTTCCTCATGGTATTCTAGAATGGATTCTGGGAAAGAAAGA ENSP00000371152.4:p.Val262AlafsTer11
ENST00000517409.2:n.704_705insCCATGTGGATAGGGTTCCTCATGGTATTCTAGAATGGATTCTGGGAAAGAAAGA
ENST00000518746.2:n.2422_2423insCCATGTGGATAGGGTTCCTCATGGTATTCTAGAATGGATTCTGGGAAAGAAAGA
ENST00000519545.6:n.753_754insCCATGTGGATAGGGTTCCTCATGGTATTCTAGAATGGATTCTGGGAAAGAAAGA
ENST00000520781.6:c.661_662insCCATGTGGATAGGGTTCCTCATGGTATTCTAGAATGGATTCTGGGAAAGAAAGA ENSP00000427751.1:p.Val221AlafsTer11
ENST00000521542.2:n.44_45insCCATGTGGATAGGGTTCCTCATGGTATTCTAGAATGGATTCTGGGAAAGAAAGA
ENST00000635756.1:c.149_150insCCATGTGGATAGGGTTCCTCATGGTATTCTAGAATGGATTCTGGGAAAGAAAGA
ENST00000635944.1:c.*572_*573insCCATGTGGATAGGGTTCCTCATGGTATTCTAGAATGGATTCTGGGAAAGAAAGA ENSP00000490195.1:n.*572_*573insCCATGTGGA...
ENST00000635998.1:c.736_737insCCATGTGGATAGGGTTCCTCATGGTATTCTAGAATGGATTCTGGGAAAGAAAGA ENSP00000490506.1:p.Val246AlafsTer11
ENST00000636009.1:c.593_594insCCATGTGGATAGGGTTCCTCATGGTATTCTAGAATGGATTCTGGGAAAGAAAGA ENSP00000489988.1:n.593_594insCCATGTGGATA...
ENST00000636033.1:c.*572_*573insCCATGTGGATAGGGTTCCTCATGGTATTCTAGAATGGATTCTGGGAAAGAAAGA ENSP00000489617.1:n.*572_*573insCCATGTGGA...
ENST00000636050.1:c.*579_*580insCCATGTGGATAGGGTTCCTCATGGTATTCTAGAATGGATTCTGGGAAAGAAAGA ENSP00000490562.1:n.*579_*580insCCATGTGGA...
ENST00000636128.1:c.415_416insCCATGTGGATAGGGTTCCTCATGGTATTCTAGAATGGATTCTGGGAAAGAAAGA ENSP00000489789.1:p.Val139AlafsTer11
ENST00000636160.1:c.*628_*629insCCATGTGGATAGGGTTCCTCATGGTATTCTAGAATGGATTCTGGGAAAGAAAGA ENSP00000489651.1:n.*628_*629insCCATGTGGA...
ENST00000636171.1:c.679_680insCCATGTGGATAGGGTTCCTCATGGTATTCTAGAATGGATTCTGGGAAAGAAAGA ENSP00000489761.1:p.Val227AlafsTer11
ENST00000636455.1:c.784_785insCCATGTGGATAGGGTTCCTCATGGTATTCTAGAATGGATTCTGGGAAAGAAAGA ENSP00000490502.1:p.Val262AlafsTer11
ENST00000636494.1:c.*516_*517insCCATGTGGATAGGGTTCCTCATGGTATTCTAGAATGGATTCTGGGAAAGAAAGA ENSP00000490388.1:n.*516_*517insCCATGTGGA...
ENST00000636563.1:n.398_399insCCATGTGGATAGGGTTCCTCATGGTATTCTAGAATGGATTCTGGGAAAGAAAGA
ENST00000636577.1:c.676_677insCCATGTGGATAGGGTTCCTCATGGTATTCTAGAATGGATTCTGGGAAAGAAAGA ENSP00000490027.1:p.Val226AlafsTer11
ENST00000636691.1:c.541_542insCCATGTGGATAGGGTTCCTCATGGTATTCTAGAATGGATTCTGGGAAAGAAAGA ENSP00000490725.1:p.Val181AlafsTer11
ENST00000636701.1:c.*387_*388insCCATGTGGATAGGGTTCCTCATGGTATTCTAGAATGGATTCTGGGAAAGAAAGA ENSP00000489800.1:n.*387_*388insCCATGTGGA...
ENST00000636815.1:c.653_654insCCATGTGGATAGGGTTCCTCATGGTATTCTAGAATGGATTCTGGGAAAGAAAGA
ENST00000636920.1:c.*572_*573insCCATGTGGATAGGGTTCCTCATGGTATTCTAGAATGGATTCTGGGAAAGAAAGA ENSP00000490437.1:n.*572_*573insCCATGTGGA...
ENST00000636997.1:c.649_650insCCATGTGGATAGGGTTCCTCATGGTATTCTAGAATGGATTCTGGGAAAGAAAGA ENSP00000490093.1:p.Val217AlafsTer11
ENST00000637013.1:c.*1104_*1105insCCATGTGGATAGGGTTCCTCATGGTATTCTAGAATGGATTCTGGGAAAGAAAGA ENSP00000490596.1:n.*1104_*1105insCCATGTG...
ENST00000637014.1:n.1143_1144insCCATGTGGATAGGGTTCCTCATGGTATTCTAGAATGGATTCTGGGAAAGAAAGA
ENST00000637095.1:c.*516_*517insCCATGTGGATAGGGTTCCTCATGGTATTCTAGAATGGATTCTGGGAAAGAAAGA ENSP00000490415.1:n.*516_*517insCCATGTGGA...
ENST00000637244.1:c.*1254_*1255insCCATGTGGATAGGGTTCCTCATGGTATTCTAGAATGGATTCTGGGAAAGAAAGA ENSP00000490188.1:n.*1254_*1255insCCATGTG...
ENST00000637343.1:n.2173_2174insCCATGTGGATAGGGTTCCTCATGGTATTCTAGAATGGATTCTGGGAAAGAAAGA
ENST00000637429.1:c.*948_*949insCCATGTGGATAGGGTTCCTCATGGTATTCTAGAATGGATTCTGGGAAAGAAAGA ENSP00000490522.1:n.*948_*949insCCATGTGGA...
ENST00000637484.1:c.*698_*699insCCATGTGGATAGGGTTCCTCATGGTATTCTAGAATGGATTCTGGGAAAGAAAGA ENSP00000490837.1:n.*698_*699insCCATGTGGA...
ENST00000637528.1:c.673_674insCCATGTGGATAGGGTTCCTCATGGTATTCTAGAATGGATTCTGGGAAAGAAAGA ENSP00000490801.1:p.Val225AlafsTer11
ENST00000637609.1:n.3457_3458insCCATGTGGATAGGGTTCCTCATGGTATTCTAGAATGGATTCTGGGAAAGAAAGA
ENST00000637636.1:c.730_731insCCATGTGGATAGGGTTCCTCATGGTATTCTAGAATGGATTCTGGGAAAGAAAGA ENSP00000490112.1:p.Val244AlafsTer11
ENST00000637790.2:c.736_737insCCATGTGGATAGGGTTCCTCATGGTATTCTAGAATGGATTCTGGGAAAGAAAGA MANE Select ENSP00000490272.1:p.Val246AlafsTer11
ENST00000637857.1:n.1102_1103insCCATGTGGATAGGGTTCCTCATGGTATTCTAGAATGGATTCTGGGAAAGAAAGA
ENST00000637922.1:c.541_542insCCATGTGGATAGGGTTCCTCATGGTATTCTAGAATGGATTCTGGGAAAGAAAGA ENSP00000490071.1:p.Val181AlafsTer11
ENST00000637991.1:c.709_710insCCATGTGGATAGGGTTCCTCATGGTATTCTAGAATGGATTCTGGGAAAGAAAGA ENSP00000489901.1:p.Val237AlafsTer11
ENST00000638028.1:n.953_954insCCATGTGGATAGGGTTCCTCATGGTATTCTAGAATGGATTCTGGGAAAGAAAGA
ENST00000638069.1:n.1557_1558insCCATGTGGATAGGGTTCCTCATGGTATTCTAGAATGGATTCTGGGAAAGAAAGA
ENST00000262097.10:c.736_737insCCATGTGGATAGGGTTCCTCATGGTATTCTAGAATGGATTCTGGGAAAGAAAGA ENSP00000262097.6:p.Val246AlafsTer11
ENST00000314146.10:c.718_719insCCATGTGGATAGGGTTCCTCATGGTATTCTAGAATGGATTCTGGGAAAGAAAGA ENSP00000326970.10:p.Val240AlafsTer11
ENST00000381733.8:c.784_785insCCATGTGGATAGGGTTCCTCATGGTATTCTAGAATGGATTCTGGGAAAGAAAGA ENSP00000371152.4:p.Val262AlafsTer11
ENST00000518746.1:n.553_554insCCATGTGGATAGGGTTCCTCATGGTATTCTAGAATGGATTCTGGGAAAGAAAGA
ENST00000519468.5:n.565_566insCCATGTGGATAGGGTTCCTCATGGTATTCTAGAATGGATTCTGGGAAAGAAAGA
ENST00000520781.5:c.661_662insCCATGTGGATAGGGTTCCTCATGGTATTCTAGAATGGATTCTGGGAAAGAAAGA ENSP00000427751.1:p.Val221AlafsTer11
ENST00000521542.1:n.449_450insCCATGTGGATAGGGTTCCTCATGGTATTCTAGAATGGATTCTGGGAAAGAAAGA
NM_001127505.1:c.718_719insCCATGTGGATAGGGTTCCTCATGGTATTCTAGAATGGATTCTGGGAAAGAAAGA NP_001120977.1:p.Val240AlafsTer11
NM_001127505.2:c.718_719insCCATGTGGATAGGGTTCCTCATGGTATTCTAGAATGGATTCTGGGAAAGAAAGA NP_001120977.1:p.Val240AlafsTer11
NM_004315.4:c.784_785insCCATGTGGATAGGGTTCCTCATGGTATTCTAGAATGGATTCTGGGAAAGAAAGA NP_004306.3:p.Val262AlafsTer11
NM_004315.5:c.784_785insCCATGTGGATAGGGTTCCTCATGGTATTCTAGAATGGATTCTGGGAAAGAAAGA NP_004306.3:p.Val262AlafsTer11
NM_177924.3:c.736_737insCCATGTGGATAGGGTTCCTCATGGTATTCTAGAATGGATTCTGGGAAAGAAAGA NP_808592.2:p.Val246AlafsTer11
NM_177924.4:c.736_737insCCATGTGGATAGGGTTCCTCATGGTATTCTAGAATGGATTCTGGGAAAGAAAGA NP_808592.2:p.Val246AlafsTer11
XM_005273504.2:c.670_671insCCATGTGGATAGGGTTCCTCATGGTATTCTAGAATGGATTCTGGGAAAGAAAGA XP_005273561.1:p.Val224AlafsTer11
NM_001363743.1:c.541_542insCCATGTGGATAGGGTTCCTCATGGTATTCTAGAATGGATTCTGGGAAAGAAAGA NP_001350672.1:p.Val181AlafsTer11
XM_005273504.3:c.670_671insCCATGTGGATAGGGTTCCTCATGGTATTCTAGAATGGATTCTGGGAAAGAAAGA XP_005273561.1:p.Val224AlafsTer11
NM_177924.5:c.736_737insCCATGTGGATAGGGTTCCTCATGGTATTCTAGAATGGATTCTGGGAAAGAAAGA MANE Select NP_808592.2:p.Val246AlafsTer11
NM_001127505.3:c.718_719insCCATGTGGATAGGGTTCCTCATGGTATTCTAGAATGGATTCTGGGAAAGAAAGA NP_001120977.1:p.Val240AlafsTer11
NM_001363743.2:c.541_542insCCATGTGGATAGGGTTCCTCATGGTATTCTAGAATGGATTCTGGGAAAGAAAGA NP_001350672.1:p.Val181AlafsTer11
NM_004315.6:c.784_785insCCATGTGGATAGGGTTCCTCATGGTATTCTAGAATGGATTCTGGGAAAGAAAGA NP_004306.3:p.Val262AlafsTer11