Canonical Allele Identifier: CA1768019806
Gene: ASAH1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.18061365_18061367delinsGAA , CM000670.2:g.18061365_18061367delinsGAA GRCh38
NC_000008.10:g.17918874_17918876delinsGAA , CM000670.1:g.17918874_17918876delinsGAA GRCh37
NC_000008.9:g.17963154_17963156delinsGAA NCBI36
NG_008985.1:g.28632_28634delinsTTC
NG_008985.2:g.28632_28634delinsTTC

Transcript Alleles

HGVS Amino-acid change
ENST00000381733.9:c.833+10_833+12delinsTTC ENSP00000371152.4:n.833+10_833+12delinsTT...
ENST00000518746.2:n.2471+10_2471+12delinsTTC
ENST00000520781.6:c.710+10_710+12delinsTTC ENSP00000427751.1:n.710+10_710+12delinsTT...
ENST00000521542.2:n.103_105delinsTTC
ENST00000635756.1:c.198+10_198+12delinsTTC
ENST00000635944.1:c.*621+10_*621+12delinsTTC ENSP00000490195.1:n.*621+10_*621+12delins...
ENST00000635998.1:c.785+10_785+12delinsTTC ENSP00000490506.1:n.785+10_785+12delinsTT...
ENST00000636009.1:c.642+10_642+12delinsTTC ENSP00000489988.1:n.642+10_642+12delinsTT...
ENST00000636033.1:c.*621+10_*621+12delinsTTC ENSP00000489617.1:n.*621+10_*621+12delins...
ENST00000636050.1:c.*628+10_*628+12delinsTTC ENSP00000490562.1:n.*628+10_*628+12delins...
ENST00000636128.1:c.464+10_464+12delinsTTC ENSP00000489789.1:n.464+10_464+12delinsTT...
ENST00000636160.1:c.*677+10_*677+12delinsTTC ENSP00000489651.1:n.*677+10_*677+12delins...
ENST00000636171.1:c.728+10_728+12delinsTTC ENSP00000489761.1:n.728+10_728+12delinsTT...
ENST00000636455.1:c.833+10_833+12delinsTTC ENSP00000490502.1:n.833+10_833+12delinsTT...
ENST00000636494.1:c.*565+10_*565+12delinsTTC ENSP00000490388.1:n.*565+10_*565+12delins...
ENST00000636563.1:n.447+10_447+12delinsTTC
ENST00000636577.1:c.725+10_725+12delinsTTC ENSP00000490027.1:n.725+10_725+12delinsTT...
ENST00000636691.1:c.590+10_590+12delinsTTC ENSP00000490725.1:n.590+10_590+12delinsTT...
ENST00000636701.1:c.*436+10_*436+12delinsTTC ENSP00000489800.1:n.*436+10_*436+12delins...
ENST00000636815.1:c.702+10_702+12delinsTTC
ENST00000636920.1:c.*621+10_*621+12delinsTTC ENSP00000490437.1:n.*621+10_*621+12delins...
ENST00000636997.1:c.698+10_698+12delinsTTC ENSP00000490093.1:n.698+10_698+12delinsTT...
ENST00000637013.1:c.*1153+10_*1153+12delinsTTC ENSP00000490596.1:n.*1153+10_*1153+12deli...
ENST00000637014.1:n.1192+10_1192+12delinsTTC
ENST00000637095.1:c.*565+10_*565+12delinsTTC ENSP00000490415.1:n.*565+10_*565+12delins...
ENST00000637244.1:c.*1303+10_*1303+12delinsTTC ENSP00000490188.1:n.*1303+10_*1303+12deli...
ENST00000637343.1:n.2222+10_2222+12delinsTTC
ENST00000637429.1:c.*997+10_*997+12delinsTTC ENSP00000490522.1:n.*997+10_*997+12delins...
ENST00000637484.1:c.*747+10_*747+12delinsTTC ENSP00000490837.1:n.*747+10_*747+12delins...
ENST00000637528.1:c.722+10_722+12delinsTTC ENSP00000490801.1:n.722+10_722+12delinsTT...
ENST00000637609.1:n.3506+10_3506+12delinsTTC
ENST00000637636.1:c.779+10_779+12delinsTTC ENSP00000490112.1:n.779+10_779+12delinsTT...
ENST00000637790.2:c.785+10_785+12delinsTTC MANE Select ENSP00000490272.1:n.785+10_785+12delinsTT...
ENST00000637857.1:n.1151+10_1151+12delinsTTC
ENST00000637922.1:c.590+10_590+12delinsTTC ENSP00000490071.1:n.590+10_590+12delinsTT...
ENST00000637991.1:c.758+10_758+12delinsTTC ENSP00000489901.1:n.758+10_758+12delinsTT...
ENST00000638028.1:n.1002+10_1002+12delinsTTC
ENST00000638069.1:n.1606+10_1606+12delinsTTC
ENST00000262097.10:c.785+10_785+12delinsTTC ENSP00000262097.6:n.785+10_785+12delinsTT...
ENST00000314146.10:c.767+10_767+12delinsTTC ENSP00000326970.10:n.767+10_767+12delinsT...
ENST00000381733.8:c.833+10_833+12delinsTTC ENSP00000371152.4:n.833+10_833+12delinsTT...
ENST00000519468.5:n.614+10_614+12delinsTTC
ENST00000520781.5:c.710+10_710+12delinsTTC ENSP00000427751.1:n.710+10_710+12delinsTT...
ENST00000521542.1:n.498+10_498+12delinsTTC
NM_001127505.1:c.767+10_767+12delinsTTC NP_001120977.1:n.767+10_767+12delinsTTC
NM_001127505.2:c.767+10_767+12delinsTTC NP_001120977.1:n.767+10_767+12delinsTTC
NM_004315.4:c.833+10_833+12delinsTTC NP_004306.3:n.833+10_833+12delinsTTC
NM_004315.5:c.833+10_833+12delinsTTC NP_004306.3:n.833+10_833+12delinsTTC
NM_177924.3:c.785+10_785+12delinsTTC NP_808592.2:n.785+10_785+12delinsTTC
NM_177924.4:c.785+10_785+12delinsTTC NP_808592.2:n.785+10_785+12delinsTTC
XM_005273504.2:c.719+10_719+12delinsTTC XP_005273561.1:n.719+10_719+12delinsTTC
NM_001363743.1:c.590+10_590+12delinsTTC NP_001350672.1:n.590+10_590+12delinsTTC
XM_005273504.3:c.719+10_719+12delinsTTC XP_005273561.1:n.719+10_719+12delinsTTC
NM_177924.5:c.785+10_785+12delinsTTC MANE Select NP_808592.2:n.785+10_785+12delinsTTC
NM_001127505.3:c.767+10_767+12delinsTTC NP_001120977.1:n.767+10_767+12delinsTTC
NM_001363743.2:c.590+10_590+12delinsTTC NP_001350672.1:n.590+10_590+12delinsTTC
NM_004315.6:c.833+10_833+12delinsTTC NP_004306.3:n.833+10_833+12delinsTTC