Canonical Allele Identifier: CA2579103501

Gene: ASAH1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.18061453_18061454insT , CM000670.2:g.18061453_18061454insT	GRCh38
NC_000008.10:g.17918962_17918963insT , CM000670.1:g.17918962_17918963insT	GRCh37
NC_000008.9:g.17963242_17963243insT	NCBI36
NG_008985.1:g.28545_28546insA
NG_008985.2:g.28545_28546insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381733.9:c.756_757insA	ENSP00000371152.4:p.Leu253ThrfsTer18
ENST00000517409.2:n.676_677insA
ENST00000518746.2:n.2394_2395insA
ENST00000519545.6:n.725_726insA
ENST00000520781.6:c.633_634insA	ENSP00000427751.1:p.Leu212ThrfsTer18
ENST00000521542.2:n.16_17insA
ENST00000635756.1:c.126-5_126-4insA
ENST00000635944.1:c.*544_*545insA	ENSP00000490195.1:n.*544_*545insA
ENST00000635998.1:c.708_709insA	ENSP00000490506.1:p.Leu237ThrfsTer18
ENST00000636009.1:c.565_566insA	ENSP00000489988.1:n.565_566insA
ENST00000636033.1:c.*544_*545insA	ENSP00000489617.1:n.*544_*545insA
ENST00000636050.1:c.*551_*552insA	ENSP00000490562.1:n.*551_*552insA
ENST00000636128.1:c.387_388insA	ENSP00000489789.1:p.Leu130ThrfsTer18
ENST00000636160.1:c.*600_*601insA	ENSP00000489651.1:n.*600_*601insA
ENST00000636171.1:c.651_652insA	ENSP00000489761.1:p.Leu218ThrfsTer18
ENST00000636455.1:c.756_757insA	ENSP00000490502.1:p.Leu253ThrfsTer18
ENST00000636494.1:c.*488_*489insA	ENSP00000490388.1:n.*488_*489insA
ENST00000636563.1:n.370_371insA
ENST00000636577.1:c.648_649insA	ENSP00000490027.1:p.Leu217ThrfsTer18
ENST00000636691.1:c.513_514insA	ENSP00000490725.1:p.Leu172ThrfsTer18
ENST00000636701.1:c.*359_*360insA	ENSP00000489800.1:n.*359_*360insA
ENST00000636815.1:c.625_626insA
ENST00000636920.1:c.*544_*545insA	ENSP00000490437.1:n.*544_*545insA
ENST00000636997.1:c.621_622insA	ENSP00000490093.1:p.Leu208ThrfsTer18
ENST00000637013.1:c.*1076_*1077insA	ENSP00000490596.1:n.*1076_*1077insA
ENST00000637014.1:n.1115_1116insA
ENST00000637095.1:c.*488_*489insA	ENSP00000490415.1:n.*488_*489insA
ENST00000637244.1:c.*1226_*1227insA	ENSP00000490188.1:n.*1226_*1227insA
ENST00000637343.1:n.2145_2146insA
ENST00000637429.1:c.*920_*921insA	ENSP00000490522.1:n.*920_*921insA
ENST00000637484.1:c.*670_*671insA	ENSP00000490837.1:n.*670_*671insA
ENST00000637528.1:c.645_646insA	ENSP00000490801.1:p.Leu216ThrfsTer18
ENST00000637609.1:n.3429_3430insA
ENST00000637636.1:c.702_703insA	ENSP00000490112.1:p.Leu235ThrfsTer18
ENST00000637790.2:c.708_709insA MANE Select	ENSP00000490272.1:p.Leu237ThrfsTer18
ENST00000637857.1:n.1074_1075insA
ENST00000637922.1:c.513_514insA	ENSP00000490071.1:p.Leu172ThrfsTer18
ENST00000637991.1:c.681_682insA	ENSP00000489901.1:p.Leu228ThrfsTer18
ENST00000638028.1:n.925_926insA
ENST00000638069.1:n.1529_1530insA
ENST00000262097.10:c.708_709insA	ENSP00000262097.6:p.Leu237ThrfsTer18
ENST00000314146.10:c.690_691insA	ENSP00000326970.10:p.Leu231ThrfsTer18
ENST00000381733.8:c.756_757insA	ENSP00000371152.4:p.Leu253ThrfsTer18
ENST00000518746.1:n.525_526insA
ENST00000519468.5:n.537_538insA
ENST00000520781.5:c.633_634insA	ENSP00000427751.1:p.Leu212ThrfsTer18
ENST00000521542.1:n.421_422insA
NM_001127505.1:c.690_691insA	NP_001120977.1:p.Leu231ThrfsTer18
NM_001127505.2:c.690_691insA	NP_001120977.1:p.Leu231ThrfsTer18
NM_004315.4:c.756_757insA	NP_004306.3:p.Leu253ThrfsTer18
NM_004315.5:c.756_757insA	NP_004306.3:p.Leu253ThrfsTer18
NM_177924.3:c.708_709insA	NP_808592.2:p.Leu237ThrfsTer18
NM_177924.4:c.708_709insA	NP_808592.2:p.Leu237ThrfsTer18
XM_005273504.2:c.642_643insA	XP_005273561.1:p.Leu215ThrfsTer18
NM_001363743.1:c.513_514insA	NP_001350672.1:p.Leu172ThrfsTer18
XM_005273504.3:c.642_643insA	XP_005273561.1:p.Leu215ThrfsTer18
NM_177924.5:c.708_709insA MANE Select	NP_808592.2:p.Leu237ThrfsTer18
NM_001127505.3:c.690_691insA	NP_001120977.1:p.Leu231ThrfsTer18
NM_001363743.2:c.513_514insA	NP_001350672.1:p.Leu172ThrfsTer18
NM_004315.6:c.756_757insA	NP_004306.3:p.Leu253ThrfsTer18