Canonical Allele Identifier: CA1768019391

Gene: ASAH1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.18061108_18061109delinsCA , CM000670.2:g.18061108_18061109delinsCA	GRCh38
NC_000008.10:g.17918617_17918618delinsCA , CM000670.1:g.17918617_17918618delinsCA	GRCh37
NC_000008.9:g.17962897_17962898delinsCA	NCBI36
NG_008985.1:g.28890_28891delinsTG
NG_008985.2:g.28890_28891delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381733.9:c.833+268_833+269delinsTG	ENSP00000371152.4:n.833+268_833+269delinsTG
ENST00000518746.2:n.2471+268_2471+269delinsTG
ENST00000520781.6:c.710+268_710+269delinsTG	ENSP00000427751.1:n.710+268_710+269delinsTG
ENST00000521542.2:n.361_362delinsTG
ENST00000635756.1:c.198+268_198+269delinsTG
ENST00000635944.1:c.*621+268_*621+269delinsTG	ENSP00000490195.1:n.*621+268_*621+269delinsTG
ENST00000635998.1:c.785+268_785+269delinsTG	ENSP00000490506.1:n.785+268_785+269delinsTG
ENST00000636009.1:c.642+268_642+269delinsTG	ENSP00000489988.1:n.642+268_642+269delinsTG
ENST00000636033.1:c.*621+268_*621+269delinsTG	ENSP00000489617.1:n.*621+268_*621+269delinsTG
ENST00000636050.1:c.*628+268_*628+269delinsTG	ENSP00000490562.1:n.*628+268_*628+269delinsTG
ENST00000636128.1:c.464+268_464+269delinsTG	ENSP00000489789.1:n.464+268_464+269delinsTG
ENST00000636160.1:c.*677+268_*677+269delinsTG	ENSP00000489651.1:n.*677+268_*677+269delinsTG
ENST00000636171.1:c.728+268_728+269delinsTG	ENSP00000489761.1:n.728+268_728+269delinsTG
ENST00000636455.1:c.833+268_833+269delinsTG	ENSP00000490502.1:n.833+268_833+269delinsTG
ENST00000636494.1:c.*565+268_*565+269delinsTG	ENSP00000490388.1:n.*565+268_*565+269delinsTG
ENST00000636563.1:n.447+268_447+269delinsTG
ENST00000636577.1:c.725+268_725+269delinsTG	ENSP00000490027.1:n.725+268_725+269delinsTG
ENST00000636691.1:c.590+268_590+269delinsTG	ENSP00000490725.1:n.590+268_590+269delinsTG
ENST00000636701.1:c.*436+268_*436+269delinsTG	ENSP00000489800.1:n.*436+268_*436+269delinsTG
ENST00000636815.1:c.702+268_702+269delinsTG
ENST00000636920.1:c.*621+268_*621+269delinsTG	ENSP00000490437.1:n.*621+268_*621+269delinsTG
ENST00000636997.1:c.698+268_698+269delinsTG	ENSP00000490093.1:n.698+268_698+269delinsTG
ENST00000637013.1:c.*1153+268_*1153+269delinsTG	ENSP00000490596.1:n.*1153+268_*1153+269delinsTG
ENST00000637014.1:n.1192+268_1192+269delinsTG
ENST00000637095.1:c.*565+268_*565+269delinsTG	ENSP00000490415.1:n.*565+268_*565+269delinsTG
ENST00000637244.1:c.*1303+268_*1303+269delinsTG	ENSP00000490188.1:n.*1303+268_*1303+269delinsTG
ENST00000637343.1:n.2222+268_2222+269delinsTG
ENST00000637429.1:c.*997+268_*997+269delinsTG	ENSP00000490522.1:n.*997+268_*997+269delinsTG
ENST00000637484.1:c.*747+268_*747+269delinsTG	ENSP00000490837.1:n.*747+268_*747+269delinsTG
ENST00000637528.1:c.722+268_722+269delinsTG	ENSP00000490801.1:n.722+268_722+269delinsTG
ENST00000637609.1:n.3506+268_3506+269delinsTG
ENST00000637636.1:c.779+268_779+269delinsTG	ENSP00000490112.1:n.779+268_779+269delinsTG
ENST00000637790.2:c.785+268_785+269delinsTG MANE Select	ENSP00000490272.1:n.785+268_785+269delinsTG
ENST00000637857.1:n.1151+268_1151+269delinsTG
ENST00000637922.1:c.590+268_590+269delinsTG	ENSP00000490071.1:n.590+268_590+269delinsTG
ENST00000637991.1:c.758+268_758+269delinsTG	ENSP00000489901.1:n.758+268_758+269delinsTG
ENST00000638028.1:n.1002+268_1002+269delinsTG
ENST00000638069.1:n.1606+268_1606+269delinsTG
ENST00000262097.10:c.785+268_785+269delinsTG	ENSP00000262097.6:n.785+268_785+269delinsTG
ENST00000314146.10:c.767+268_767+269delinsTG	ENSP00000326970.10:n.767+268_767+269delinsTG
ENST00000381733.8:c.833+268_833+269delinsTG	ENSP00000371152.4:n.833+268_833+269delinsTG
ENST00000519468.5:n.614+268_614+269delinsTG
ENST00000520781.5:c.710+268_710+269delinsTG	ENSP00000427751.1:n.710+268_710+269delinsTG
ENST00000521542.1:n.498+268_498+269delinsTG
NM_001127505.1:c.767+268_767+269delinsTG	NP_001120977.1:n.767+268_767+269delinsTG
NM_001127505.2:c.767+268_767+269delinsTG	NP_001120977.1:n.767+268_767+269delinsTG
NM_004315.4:c.833+268_833+269delinsTG	NP_004306.3:n.833+268_833+269delinsTG
NM_004315.5:c.833+268_833+269delinsTG	NP_004306.3:n.833+268_833+269delinsTG
NM_177924.3:c.785+268_785+269delinsTG	NP_808592.2:n.785+268_785+269delinsTG
NM_177924.4:c.785+268_785+269delinsTG	NP_808592.2:n.785+268_785+269delinsTG
XM_005273504.2:c.719+268_719+269delinsTG	XP_005273561.1:n.719+268_719+269delinsTG
NM_001363743.1:c.590+268_590+269delinsTG	NP_001350672.1:n.590+268_590+269delinsTG
XM_005273504.3:c.719+268_719+269delinsTG	XP_005273561.1:n.719+268_719+269delinsTG
NM_177924.5:c.785+268_785+269delinsTG MANE Select	NP_808592.2:n.785+268_785+269delinsTG
NM_001127505.3:c.767+268_767+269delinsTG	NP_001120977.1:n.767+268_767+269delinsTG
NM_001363743.2:c.590+268_590+269delinsTG	NP_001350672.1:n.590+268_590+269delinsTG
NM_004315.6:c.833+268_833+269delinsTG	NP_004306.3:n.833+268_833+269delinsTG