Canonical Allele Identifier: CA1768025429

Gene: ASAH1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.18064528_18064531delinsTCTC , CM000670.2:g.18064528_18064531delinsTCTC	GRCh38
NC_000008.10:g.17922037_17922040delinsTCTC , CM000670.1:g.17922037_17922040delinsTCTC	GRCh37
NC_000008.9:g.17966317_17966320delinsTCTC	NCBI36
NG_008985.1:g.25468_25471delinsGAGA
NG_008985.2:g.25468_25471delinsGAGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381733.9:c.431_434delinsGAGA	ENSP00000371152.4:p.Gly144=
ENST00000519545.6:n.400_403delinsGAGA
ENST00000520781.6:c.383-1301_383-1298delinsGAGA	ENSP00000427751.1:n.383-1301_383-1298delinsGAGA
ENST00000523593.6:c.*226_*229delinsGAGA	ENSP00000490700.1:n.*226_*229delinsGAGA
ENST00000523744.2:n.4141_4144delinsGAGA
ENST00000635769.1:c.404_407delinsGAGA	ENSP00000490485.1:p.Gly135=
ENST00000635944.1:c.*219_*222delinsGAGA	ENSP00000490195.1:n.*219_*222delinsGAGA
ENST00000635998.1:c.383_386delinsGAGA	ENSP00000490506.1:p.Gly128=
ENST00000636009.1:c.315-1301_315-1298delinsGAGA	ENSP00000489988.1:n.315-1301_315-1298delinsGAGA
ENST00000636033.1:c.*219_*222delinsGAGA	ENSP00000489617.1:n.*219_*222delinsGAGA
ENST00000636050.1:c.*226_*229delinsGAGA	ENSP00000490562.1:n.*226_*229delinsGAGA
ENST00000636128.1:c.382+2689_382+2692delinsGAGA	ENSP00000489789.1:n.382+2689_382+2692delinsGAGA
ENST00000636160.1:c.*275_*278delinsGAGA	ENSP00000489651.1:n.*275_*278delinsGAGA
ENST00000636171.1:c.383-57_383-54delinsGAGA	ENSP00000489761.1:n.383-57_383-54delinsGAGA
ENST00000636299.1:c.*154_*157delinsGAGA	ENSP00000490202.1:n.*154_*157delinsGAGA
ENST00000636435.1:n.3155_3158delinsGAGA
ENST00000636455.1:c.431_434delinsGAGA	ENSP00000490502.1:p.Gly144=
ENST00000636494.1:c.*163_*166delinsGAGA	ENSP00000490388.1:n.*163_*166delinsGAGA
ENST00000636563.1:n.45_48delinsGAGA
ENST00000636577.1:c.383-60_383-57delinsGAGA	ENSP00000490027.1:n.383-60_383-57delinsGAGA
ENST00000636691.1:c.188_191delinsGAGA	ENSP00000490725.1:p.Gly63=
ENST00000636701.1:c.*34_*37delinsGAGA	ENSP00000489800.1:n.*34_*37delinsGAGA
ENST00000636815.1:c.300_303delinsGAGA
ENST00000636823.1:c.188_191delinsGAGA	ENSP00000490798.1:p.Gly63=
ENST00000636828.1:n.3247_3250delinsGAGA
ENST00000636920.1:c.*219_*222delinsGAGA	ENSP00000490437.1:n.*219_*222delinsGAGA
ENST00000636997.1:c.296_299delinsGAGA	ENSP00000490093.1:p.Gly99=
ENST00000637013.1:c.*595_*598delinsGAGA	ENSP00000490596.1:n.*595_*598delinsGAGA
ENST00000637095.1:c.*163_*166delinsGAGA	ENSP00000490415.1:n.*163_*166delinsGAGA
ENST00000637244.1:c.*901_*904delinsGAGA	ENSP00000490188.1:n.*901_*904delinsGAGA
ENST00000637343.1:n.594_597delinsGAGA
ENST00000637429.1:c.*595_*598delinsGAGA	ENSP00000490522.1:n.*595_*598delinsGAGA
ENST00000637484.1:c.*420-1301_*420-1298delinsGAGA	ENSP00000490837.1:n.*420-1301_*420-1298delinsGAGA
ENST00000637528.1:c.383-63_383-60delinsGAGA	ENSP00000490801.1:n.383-63_383-60delinsGAGA
ENST00000637603.1:c.353_356delinsGAGA	ENSP00000489979.1:p.Gly118=
ENST00000637609.1:n.3104_3107delinsGAGA
ENST00000637636.1:c.377_380delinsGAGA	ENSP00000490112.1:p.Gly126=
ENST00000637638.1:c.383_386delinsGAGA	ENSP00000490774.1:p.Gly128=
ENST00000637718.1:c.188_191delinsGAGA	ENSP00000490133.1:p.Gly63=
ENST00000637790.2:c.383_386delinsGAGA MANE Select	ENSP00000490272.1:p.Gly128=
ENST00000637857.1:n.105-2108_105-2105delinsGAGA
ENST00000637922.1:c.188_191delinsGAGA	ENSP00000490071.1:p.Gly63=
ENST00000637991.1:c.431-1301_431-1298delinsGAGA	ENSP00000489901.1:n.431-1301_431-1298delinsGAGA
ENST00000638069.1:n.439_442delinsGAGA
ENST00000262097.10:c.383_386delinsGAGA	ENSP00000262097.6:p.Gly128=
ENST00000314146.10:c.365_368delinsGAGA	ENSP00000326970.10:p.Gly122=
ENST00000381733.8:c.431_434delinsGAGA	ENSP00000371152.4:p.Gly144=
ENST00000519468.5:n.389-2164_389-2161delinsGAGA
ENST00000519545.5:n.397_400delinsGAGA
ENST00000520781.5:c.383-1301_383-1298delinsGAGA	ENSP00000427751.1:n.383-1301_383-1298delinsGAGA
ENST00000523593.5:n.236_239delinsGAGA
ENST00000523744.1:n.386_389delinsGAGA
NM_001127505.1:c.365_368delinsGAGA	NP_001120977.1:p.Gly122=
NM_001127505.2:c.365_368delinsGAGA	NP_001120977.1:p.Gly122=
NM_004315.4:c.431_434delinsGAGA	NP_004306.3:p.Gly144=
NM_004315.5:c.431_434delinsGAGA	NP_004306.3:p.Gly144=
NM_177924.3:c.383_386delinsGAGA	NP_808592.2:p.Gly128=
NM_177924.4:c.383_386delinsGAGA	NP_808592.2:p.Gly128=
XM_005273504.2:c.317_320delinsGAGA	XP_005273561.1:p.Gly106=
NM_001363743.1:c.188_191delinsGAGA	NP_001350672.1:p.Gly63=
XM_005273504.3:c.317_320delinsGAGA	XP_005273561.1:p.Gly106=
NM_177924.5:c.383_386delinsGAGA MANE Select	NP_808592.2:p.Gly128=
NM_001127505.3:c.365_368delinsGAGA	NP_001120977.1:p.Gly122=
NM_001363743.2:c.188_191delinsGAGA	NP_001350672.1:p.Gly63=
NM_004315.6:c.431_434delinsGAGA	NP_004306.3:p.Gly144=