Canonical Allele Identifier: CA1768019730
Gene: ASAH1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.18061322_18061327delinsTTAATA , CM000670.2:g.18061322_18061327delinsTTAATA GRCh38
NC_000008.10:g.17918831_17918836delinsTTAATA , CM000670.1:g.17918831_17918836delinsTTAATA GRCh37
NC_000008.9:g.17963111_17963116delinsTTAATA NCBI36
NG_008985.1:g.28672_28677delinsTATTAA
NG_008985.2:g.28672_28677delinsTATTAA

Transcript Alleles

HGVS Amino-acid change
ENST00000381733.9:c.833+50_833+55delinsTATTAA ENSP00000371152.4:n.833+50_833+55delinsTA...
ENST00000518746.2:n.2471+50_2471+55delinsTATTAA
ENST00000520781.6:c.710+50_710+55delinsTATTAA ENSP00000427751.1:n.710+50_710+55delinsTA...
ENST00000521542.2:n.143_148delinsTATTAA
ENST00000635756.1:c.198+50_198+55delinsTATTAA
ENST00000635944.1:c.*621+50_*621+55delinsTATTAA ENSP00000490195.1:n.*621+50_*621+55delins...
ENST00000635998.1:c.785+50_785+55delinsTATTAA ENSP00000490506.1:n.785+50_785+55delinsTA...
ENST00000636009.1:c.642+50_642+55delinsTATTAA ENSP00000489988.1:n.642+50_642+55delinsTA...
ENST00000636033.1:c.*621+50_*621+55delinsTATTAA ENSP00000489617.1:n.*621+50_*621+55delins...
ENST00000636050.1:c.*628+50_*628+55delinsTATTAA ENSP00000490562.1:n.*628+50_*628+55delins...
ENST00000636128.1:c.464+50_464+55delinsTATTAA ENSP00000489789.1:n.464+50_464+55delinsTA...
ENST00000636160.1:c.*677+50_*677+55delinsTATTAA ENSP00000489651.1:n.*677+50_*677+55delins...
ENST00000636171.1:c.728+50_728+55delinsTATTAA ENSP00000489761.1:n.728+50_728+55delinsTA...
ENST00000636455.1:c.833+50_833+55delinsTATTAA ENSP00000490502.1:n.833+50_833+55delinsTA...
ENST00000636494.1:c.*565+50_*565+55delinsTATTAA ENSP00000490388.1:n.*565+50_*565+55delins...
ENST00000636563.1:n.447+50_447+55delinsTATTAA
ENST00000636577.1:c.725+50_725+55delinsTATTAA ENSP00000490027.1:n.725+50_725+55delinsTA...
ENST00000636691.1:c.590+50_590+55delinsTATTAA ENSP00000490725.1:n.590+50_590+55delinsTA...
ENST00000636701.1:c.*436+50_*436+55delinsTATTAA ENSP00000489800.1:n.*436+50_*436+55delins...
ENST00000636815.1:c.702+50_702+55delinsTATTAA
ENST00000636920.1:c.*621+50_*621+55delinsTATTAA ENSP00000490437.1:n.*621+50_*621+55delins...
ENST00000636997.1:c.698+50_698+55delinsTATTAA ENSP00000490093.1:n.698+50_698+55delinsTA...
ENST00000637013.1:c.*1153+50_*1153+55delinsTATTAA ENSP00000490596.1:n.*1153+50_*1153+55deli...
ENST00000637014.1:n.1192+50_1192+55delinsTATTAA
ENST00000637095.1:c.*565+50_*565+55delinsTATTAA ENSP00000490415.1:n.*565+50_*565+55delins...
ENST00000637244.1:c.*1303+50_*1303+55delinsTATTAA ENSP00000490188.1:n.*1303+50_*1303+55deli...
ENST00000637343.1:n.2222+50_2222+55delinsTATTAA
ENST00000637429.1:c.*997+50_*997+55delinsTATTAA ENSP00000490522.1:n.*997+50_*997+55delins...
ENST00000637484.1:c.*747+50_*747+55delinsTATTAA ENSP00000490837.1:n.*747+50_*747+55delins...
ENST00000637528.1:c.722+50_722+55delinsTATTAA ENSP00000490801.1:n.722+50_722+55delinsTA...
ENST00000637609.1:n.3506+50_3506+55delinsTATTAA
ENST00000637636.1:c.779+50_779+55delinsTATTAA ENSP00000490112.1:n.779+50_779+55delinsTA...
ENST00000637790.2:c.785+50_785+55delinsTATTAA MANE Select ENSP00000490272.1:n.785+50_785+55delinsTA...
ENST00000637857.1:n.1151+50_1151+55delinsTATTAA
ENST00000637922.1:c.590+50_590+55delinsTATTAA ENSP00000490071.1:n.590+50_590+55delinsTA...
ENST00000637991.1:c.758+50_758+55delinsTATTAA ENSP00000489901.1:n.758+50_758+55delinsTA...
ENST00000638028.1:n.1002+50_1002+55delinsTATTAA
ENST00000638069.1:n.1606+50_1606+55delinsTATTAA
ENST00000262097.10:c.785+50_785+55delinsTATTAA ENSP00000262097.6:n.785+50_785+55delinsTA...
ENST00000314146.10:c.767+50_767+55delinsTATTAA ENSP00000326970.10:n.767+50_767+55delinsT...
ENST00000381733.8:c.833+50_833+55delinsTATTAA ENSP00000371152.4:n.833+50_833+55delinsTA...
ENST00000519468.5:n.614+50_614+55delinsTATTAA
ENST00000520781.5:c.710+50_710+55delinsTATTAA ENSP00000427751.1:n.710+50_710+55delinsTA...
ENST00000521542.1:n.498+50_498+55delinsTATTAA
NM_001127505.1:c.767+50_767+55delinsTATTAA NP_001120977.1:n.767+50_767+55delinsTATTA...
NM_001127505.2:c.767+50_767+55delinsTATTAA NP_001120977.1:n.767+50_767+55delinsTATTA...
NM_004315.4:c.833+50_833+55delinsTATTAA NP_004306.3:n.833+50_833+55delinsTATTAA
NM_004315.5:c.833+50_833+55delinsTATTAA NP_004306.3:n.833+50_833+55delinsTATTAA
NM_177924.3:c.785+50_785+55delinsTATTAA NP_808592.2:n.785+50_785+55delinsTATTAA
NM_177924.4:c.785+50_785+55delinsTATTAA NP_808592.2:n.785+50_785+55delinsTATTAA
XM_005273504.2:c.719+50_719+55delinsTATTAA XP_005273561.1:n.719+50_719+55delinsTATTA...
NM_001363743.1:c.590+50_590+55delinsTATTAA NP_001350672.1:n.590+50_590+55delinsTATTA...
XM_005273504.3:c.719+50_719+55delinsTATTAA XP_005273561.1:n.719+50_719+55delinsTATTA...
NM_177924.5:c.785+50_785+55delinsTATTAA MANE Select NP_808592.2:n.785+50_785+55delinsTATTAA
NM_001127505.3:c.767+50_767+55delinsTATTAA NP_001120977.1:n.767+50_767+55delinsTATTA...
NM_001363743.2:c.590+50_590+55delinsTATTAA NP_001350672.1:n.590+50_590+55delinsTATTA...
NM_004315.6:c.833+50_833+55delinsTATTAA NP_004306.3:n.833+50_833+55delinsTATTAA