Canonical Allele Identifier: CA849393581
Gene: ASAH1 HGNC NCBI

Linked Data

dbSNP Id: rs1315447202

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.18061324_18061328del , CM000670.2:g.18061324_18061328del GRCh38
NC_000008.10:g.17918833_17918837del , CM000670.1:g.17918833_17918837del GRCh37
NC_000008.9:g.17963113_17963117del NCBI36
NG_008985.1:g.28672_28676del
NG_008985.2:g.28672_28676del

Transcript Alleles

HGVS Amino-acid change
ENST00000381733.9:c.833+50_833+54del ENSP00000371152.4:n.833+50_833+54del
ENST00000518746.2:n.2471+50_2471+54del
ENST00000520781.6:c.710+50_710+54del ENSP00000427751.1:n.710+50_710+54del
ENST00000521542.2:n.143_147del
ENST00000635756.1:c.198+50_198+54del
ENST00000635944.1:c.*621+50_*621+54del ENSP00000490195.1:n.*621+50_*621+54del
ENST00000635998.1:c.785+50_785+54del ENSP00000490506.1:n.785+50_785+54del
ENST00000636009.1:c.642+50_642+54del ENSP00000489988.1:n.642+50_642+54del
ENST00000636033.1:c.*621+50_*621+54del ENSP00000489617.1:n.*621+50_*621+54del
ENST00000636050.1:c.*628+50_*628+54del ENSP00000490562.1:n.*628+50_*628+54del
ENST00000636128.1:c.464+50_464+54del ENSP00000489789.1:n.464+50_464+54del
ENST00000636160.1:c.*677+50_*677+54del ENSP00000489651.1:n.*677+50_*677+54del
ENST00000636171.1:c.728+50_728+54del ENSP00000489761.1:n.728+50_728+54del
ENST00000636455.1:c.833+50_833+54del ENSP00000490502.1:n.833+50_833+54del
ENST00000636494.1:c.*565+50_*565+54del ENSP00000490388.1:n.*565+50_*565+54del
ENST00000636563.1:n.447+50_447+54del
ENST00000636577.1:c.725+50_725+54del ENSP00000490027.1:n.725+50_725+54del
ENST00000636691.1:c.590+50_590+54del ENSP00000490725.1:n.590+50_590+54del
ENST00000636701.1:c.*436+50_*436+54del ENSP00000489800.1:n.*436+50_*436+54del
ENST00000636815.1:c.702+50_702+54del
ENST00000636920.1:c.*621+50_*621+54del ENSP00000490437.1:n.*621+50_*621+54del
ENST00000636997.1:c.698+50_698+54del ENSP00000490093.1:n.698+50_698+54del
ENST00000637013.1:c.*1153+50_*1153+54del ENSP00000490596.1:n.*1153+50_*1153+54del
ENST00000637014.1:n.1192+50_1192+54del
ENST00000637095.1:c.*565+50_*565+54del ENSP00000490415.1:n.*565+50_*565+54del
ENST00000637244.1:c.*1303+50_*1303+54del ENSP00000490188.1:n.*1303+50_*1303+54del
ENST00000637343.1:n.2222+50_2222+54del
ENST00000637429.1:c.*997+50_*997+54del ENSP00000490522.1:n.*997+50_*997+54del
ENST00000637484.1:c.*747+50_*747+54del ENSP00000490837.1:n.*747+50_*747+54del
ENST00000637528.1:c.722+50_722+54del ENSP00000490801.1:n.722+50_722+54del
ENST00000637609.1:n.3506+50_3506+54del
ENST00000637636.1:c.779+50_779+54del ENSP00000490112.1:n.779+50_779+54del
ENST00000637790.2:c.785+50_785+54del MANE Select ENSP00000490272.1:n.785+50_785+54del
ENST00000637857.1:n.1151+50_1151+54del
ENST00000637922.1:c.590+50_590+54del ENSP00000490071.1:n.590+50_590+54del
ENST00000637991.1:c.758+50_758+54del ENSP00000489901.1:n.758+50_758+54del
ENST00000638028.1:n.1002+50_1002+54del
ENST00000638069.1:n.1606+50_1606+54del
ENST00000262097.10:c.785+50_785+54del ENSP00000262097.6:n.785+50_785+54del
ENST00000314146.10:c.767+50_767+54del ENSP00000326970.10:n.767+50_767+54del
ENST00000381733.8:c.833+50_833+54del ENSP00000371152.4:n.833+50_833+54del
ENST00000519468.5:n.614+50_614+54del
ENST00000520781.5:c.710+50_710+54del ENSP00000427751.1:n.710+50_710+54del
ENST00000521542.1:n.498+50_498+54del
NM_001127505.1:c.767+50_767+54del NP_001120977.1:n.767+50_767+54del
NM_001127505.2:c.767+50_767+54del NP_001120977.1:n.767+50_767+54del
NM_004315.4:c.833+50_833+54del NP_004306.3:n.833+50_833+54del
NM_004315.5:c.833+50_833+54del NP_004306.3:n.833+50_833+54del
NM_177924.3:c.785+50_785+54del NP_808592.2:n.785+50_785+54del
NM_177924.4:c.785+50_785+54del NP_808592.2:n.785+50_785+54del
XM_005273504.2:c.719+50_719+54del XP_005273561.1:n.719+50_719+54del
NM_001363743.1:c.590+50_590+54del NP_001350672.1:n.590+50_590+54del
XM_005273504.3:c.719+50_719+54del XP_005273561.1:n.719+50_719+54del
NM_177924.5:c.785+50_785+54del MANE Select NP_808592.2:n.785+50_785+54del
NM_001127505.3:c.767+50_767+54del NP_001120977.1:n.767+50_767+54del
NM_001363743.2:c.590+50_590+54del NP_001350672.1:n.590+50_590+54del
NM_004315.6:c.833+50_833+54del NP_004306.3:n.833+50_833+54del