Canonical Allele Identifier: CA1768019467

Gene: ASAH1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.18061162_18061163delinsTC , CM000670.2:g.18061162_18061163delinsTC	GRCh38
NC_000008.10:g.17918671_17918672delinsTC , CM000670.1:g.17918671_17918672delinsTC	GRCh37
NC_000008.9:g.17962951_17962952delinsTC	NCBI36
NG_008985.1:g.28836_28837delinsGA
NG_008985.2:g.28836_28837delinsGA

Transcript Alleles

HGVS	Amino-acid change
ENST00000381733.9:c.833+214_833+215delinsGA	ENSP00000371152.4:n.833+214_833+215delinsGA
ENST00000518746.2:n.2471+214_2471+215delinsGA
ENST00000520781.6:c.710+214_710+215delinsGA	ENSP00000427751.1:n.710+214_710+215delinsGA
ENST00000521542.2:n.307_308delinsGA
ENST00000635756.1:c.198+214_198+215delinsGA
ENST00000635944.1:c.*621+214_*621+215delinsGA	ENSP00000490195.1:n.*621+214_*621+215delinsGA
ENST00000635998.1:c.785+214_785+215delinsGA	ENSP00000490506.1:n.785+214_785+215delinsGA
ENST00000636009.1:c.642+214_642+215delinsGA	ENSP00000489988.1:n.642+214_642+215delinsGA
ENST00000636033.1:c.*621+214_*621+215delinsGA	ENSP00000489617.1:n.*621+214_*621+215delinsGA
ENST00000636050.1:c.*628+214_*628+215delinsGA	ENSP00000490562.1:n.*628+214_*628+215delinsGA
ENST00000636128.1:c.464+214_464+215delinsGA	ENSP00000489789.1:n.464+214_464+215delinsGA
ENST00000636160.1:c.*677+214_*677+215delinsGA	ENSP00000489651.1:n.*677+214_*677+215delinsGA
ENST00000636171.1:c.728+214_728+215delinsGA	ENSP00000489761.1:n.728+214_728+215delinsGA
ENST00000636455.1:c.833+214_833+215delinsGA	ENSP00000490502.1:n.833+214_833+215delinsGA
ENST00000636494.1:c.*565+214_*565+215delinsGA	ENSP00000490388.1:n.*565+214_*565+215delinsGA
ENST00000636563.1:n.447+214_447+215delinsGA
ENST00000636577.1:c.725+214_725+215delinsGA	ENSP00000490027.1:n.725+214_725+215delinsGA
ENST00000636691.1:c.590+214_590+215delinsGA	ENSP00000490725.1:n.590+214_590+215delinsGA
ENST00000636701.1:c.*436+214_*436+215delinsGA	ENSP00000489800.1:n.*436+214_*436+215delinsGA
ENST00000636815.1:c.702+214_702+215delinsGA
ENST00000636920.1:c.*621+214_*621+215delinsGA	ENSP00000490437.1:n.*621+214_*621+215delinsGA
ENST00000636997.1:c.698+214_698+215delinsGA	ENSP00000490093.1:n.698+214_698+215delinsGA
ENST00000637013.1:c.*1153+214_*1153+215delinsGA	ENSP00000490596.1:n.*1153+214_*1153+215delinsGA
ENST00000637014.1:n.1192+214_1192+215delinsGA
ENST00000637095.1:c.*565+214_*565+215delinsGA	ENSP00000490415.1:n.*565+214_*565+215delinsGA
ENST00000637244.1:c.*1303+214_*1303+215delinsGA	ENSP00000490188.1:n.*1303+214_*1303+215delinsGA
ENST00000637343.1:n.2222+214_2222+215delinsGA
ENST00000637429.1:c.*997+214_*997+215delinsGA	ENSP00000490522.1:n.*997+214_*997+215delinsGA
ENST00000637484.1:c.*747+214_*747+215delinsGA	ENSP00000490837.1:n.*747+214_*747+215delinsGA
ENST00000637528.1:c.722+214_722+215delinsGA	ENSP00000490801.1:n.722+214_722+215delinsGA
ENST00000637609.1:n.3506+214_3506+215delinsGA
ENST00000637636.1:c.779+214_779+215delinsGA	ENSP00000490112.1:n.779+214_779+215delinsGA
ENST00000637790.2:c.785+214_785+215delinsGA MANE Select	ENSP00000490272.1:n.785+214_785+215delinsGA
ENST00000637857.1:n.1151+214_1151+215delinsGA
ENST00000637922.1:c.590+214_590+215delinsGA	ENSP00000490071.1:n.590+214_590+215delinsGA
ENST00000637991.1:c.758+214_758+215delinsGA	ENSP00000489901.1:n.758+214_758+215delinsGA
ENST00000638028.1:n.1002+214_1002+215delinsGA
ENST00000638069.1:n.1606+214_1606+215delinsGA
ENST00000262097.10:c.785+214_785+215delinsGA	ENSP00000262097.6:n.785+214_785+215delinsGA
ENST00000314146.10:c.767+214_767+215delinsGA	ENSP00000326970.10:n.767+214_767+215delinsGA
ENST00000381733.8:c.833+214_833+215delinsGA	ENSP00000371152.4:n.833+214_833+215delinsGA
ENST00000519468.5:n.614+214_614+215delinsGA
ENST00000520781.5:c.710+214_710+215delinsGA	ENSP00000427751.1:n.710+214_710+215delinsGA
ENST00000521542.1:n.498+214_498+215delinsGA
NM_001127505.1:c.767+214_767+215delinsGA	NP_001120977.1:n.767+214_767+215delinsGA
NM_001127505.2:c.767+214_767+215delinsGA	NP_001120977.1:n.767+214_767+215delinsGA
NM_004315.4:c.833+214_833+215delinsGA	NP_004306.3:n.833+214_833+215delinsGA
NM_004315.5:c.833+214_833+215delinsGA	NP_004306.3:n.833+214_833+215delinsGA
NM_177924.3:c.785+214_785+215delinsGA	NP_808592.2:n.785+214_785+215delinsGA
NM_177924.4:c.785+214_785+215delinsGA	NP_808592.2:n.785+214_785+215delinsGA
XM_005273504.2:c.719+214_719+215delinsGA	XP_005273561.1:n.719+214_719+215delinsGA
NM_001363743.1:c.590+214_590+215delinsGA	NP_001350672.1:n.590+214_590+215delinsGA
XM_005273504.3:c.719+214_719+215delinsGA	XP_005273561.1:n.719+214_719+215delinsGA
NM_177924.5:c.785+214_785+215delinsGA MANE Select	NP_808592.2:n.785+214_785+215delinsGA
NM_001127505.3:c.767+214_767+215delinsGA	NP_001120977.1:n.767+214_767+215delinsGA
NM_001363743.2:c.590+214_590+215delinsGA	NP_001350672.1:n.590+214_590+215delinsGA
NM_004315.6:c.833+214_833+215delinsGA	NP_004306.3:n.833+214_833+215delinsGA