Canonical Allele Identifier: CA1768025367

Gene: ASAH1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.18064502_18064504delinsCAT , CM000670.2:g.18064502_18064504delinsCAT	GRCh38
NC_000008.10:g.17922011_17922013delinsCAT , CM000670.1:g.17922011_17922013delinsCAT	GRCh37
NC_000008.9:g.17966291_17966293delinsCAT	NCBI36
NG_008985.1:g.25495_25497delinsATG
NG_008985.2:g.25495_25497delinsATG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381733.9:c.458_460delinsATG	ENSP00000371152.4:p.Tyr153=
ENST00000519545.6:n.427_429delinsATG
ENST00000520781.6:c.383-1274_383-1272delinsATG	ENSP00000427751.1:n.383-1274_383-1272delinsATG
ENST00000523593.6:c.*253_*255delinsATG	ENSP00000490700.1:n.*253_*255delinsATG
ENST00000523744.2:n.4168_4170delinsATG
ENST00000635769.1:c.431_433delinsATG	ENSP00000490485.1:p.Tyr144=
ENST00000635944.1:c.*246_*248delinsATG	ENSP00000490195.1:n.*246_*248delinsATG
ENST00000635998.1:c.410_412delinsATG	ENSP00000490506.1:p.Tyr137=
ENST00000636009.1:c.315-1274_315-1272delinsATG	ENSP00000489988.1:n.315-1274_315-1272delinsATG
ENST00000636033.1:c.*246_*248delinsATG	ENSP00000489617.1:n.*246_*248delinsATG
ENST00000636050.1:c.*253_*255delinsATG	ENSP00000490562.1:n.*253_*255delinsATG
ENST00000636128.1:c.382+2716_382+2718delinsATG	ENSP00000489789.1:n.382+2716_382+2718delinsATG
ENST00000636160.1:c.*302_*304delinsATG	ENSP00000489651.1:n.*302_*304delinsATG
ENST00000636171.1:c.383-30_383-28delinsATG	ENSP00000489761.1:n.383-30_383-28delinsATG
ENST00000636299.1:c.*181_*183delinsATG	ENSP00000490202.1:n.*181_*183delinsATG
ENST00000636435.1:n.3182_3184delinsATG
ENST00000636455.1:c.458_460delinsATG	ENSP00000490502.1:p.Tyr153=
ENST00000636494.1:c.*190_*192delinsATG	ENSP00000490388.1:n.*190_*192delinsATG
ENST00000636563.1:n.72_74delinsATG
ENST00000636577.1:c.383-33_383-31delinsATG	ENSP00000490027.1:n.383-33_383-31delinsATG
ENST00000636691.1:c.215_217delinsATG	ENSP00000490725.1:p.Tyr72=
ENST00000636701.1:c.*61_*63delinsATG	ENSP00000489800.1:n.*61_*63delinsATG
ENST00000636815.1:c.327_329delinsATG
ENST00000636823.1:c.215_217delinsATG	ENSP00000490798.1:p.Tyr72=
ENST00000636828.1:n.3274_3276delinsATG
ENST00000636920.1:c.*246_*248delinsATG	ENSP00000490437.1:n.*246_*248delinsATG
ENST00000636997.1:c.323_325delinsATG	ENSP00000490093.1:p.Tyr108=
ENST00000637013.1:c.*622_*624delinsATG	ENSP00000490596.1:n.*622_*624delinsATG
ENST00000637095.1:c.*190_*192delinsATG	ENSP00000490415.1:n.*190_*192delinsATG
ENST00000637244.1:c.*928_*930delinsATG	ENSP00000490188.1:n.*928_*930delinsATG
ENST00000637343.1:n.621_623delinsATG
ENST00000637429.1:c.*622_*624delinsATG	ENSP00000490522.1:n.*622_*624delinsATG
ENST00000637484.1:c.*420-1274_*420-1272delinsATG	ENSP00000490837.1:n.*420-1274_*420-1272delinsATG
ENST00000637528.1:c.383-36_383-34delinsATG	ENSP00000490801.1:n.383-36_383-34delinsATG
ENST00000637603.1:c.380_382delinsATG	ENSP00000489979.1:p.Tyr127=
ENST00000637609.1:n.3131_3133delinsATG
ENST00000637636.1:c.404_406delinsATG	ENSP00000490112.1:p.Tyr135=
ENST00000637638.1:c.410_412delinsATG	ENSP00000490774.1:p.Tyr137=
ENST00000637718.1:c.215_217delinsATG	ENSP00000490133.1:p.Tyr72=
ENST00000637790.2:c.410_412delinsATG MANE Select	ENSP00000490272.1:p.Tyr137=
ENST00000637857.1:n.105-2081_105-2079delinsATG
ENST00000637922.1:c.215_217delinsATG	ENSP00000490071.1:p.Tyr72=
ENST00000637991.1:c.431-1274_431-1272delinsATG	ENSP00000489901.1:n.431-1274_431-1272delinsATG
ENST00000638069.1:n.466_468delinsATG
ENST00000262097.10:c.410_412delinsATG	ENSP00000262097.6:p.Tyr137=
ENST00000314146.10:c.392_394delinsATG	ENSP00000326970.10:p.Tyr131=
ENST00000381733.8:c.458_460delinsATG	ENSP00000371152.4:p.Tyr153=
ENST00000519468.5:n.389-2137_389-2135delinsATG
ENST00000519545.5:n.424_426delinsATG
ENST00000520781.5:c.383-1274_383-1272delinsATG	ENSP00000427751.1:n.383-1274_383-1272delinsATG
ENST00000523593.5:n.263_265delinsATG
ENST00000523744.1:n.413_415delinsATG
NM_001127505.1:c.392_394delinsATG	NP_001120977.1:p.Tyr131=
NM_001127505.2:c.392_394delinsATG	NP_001120977.1:p.Tyr131=
NM_004315.4:c.458_460delinsATG	NP_004306.3:p.Tyr153=
NM_004315.5:c.458_460delinsATG	NP_004306.3:p.Tyr153=
NM_177924.3:c.410_412delinsATG	NP_808592.2:p.Tyr137=
NM_177924.4:c.410_412delinsATG	NP_808592.2:p.Tyr137=
XM_005273504.2:c.344_346delinsATG	XP_005273561.1:p.Tyr115=
NM_001363743.1:c.215_217delinsATG	NP_001350672.1:p.Tyr72=
XM_005273504.3:c.344_346delinsATG	XP_005273561.1:p.Tyr115=
NM_177924.5:c.410_412delinsATG MANE Select	NP_808592.2:p.Tyr137=
NM_001127505.3:c.392_394delinsATG	NP_001120977.1:p.Tyr131=
NM_001363743.2:c.215_217delinsATG	NP_001350672.1:p.Tyr72=
NM_004315.6:c.458_460delinsATG	NP_004306.3:p.Tyr153=