Canonical Allele Identifier: CA580091718

Gene: ASAH1

Linked Data

• ClinVar Variation Id: 812471
• ClinVar RCV Id: RCV001003299 ; RCV001860533 ; RCV004553550
• dbSNP Id: rs1281024431
• gnomAD v2: 8-17922011-CAT-C
• gnomAD v4: 8-18064502-CAT-C
• MyVariant Identifiers: chr8:g.17922012_17922013del (hg19) ; chr8:g.18064503_18064504del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.18064504_18064505del , CM000670.2:g.18064504_18064505del	GRCh38
NC_000008.10:g.17922013_17922014del , CM000670.1:g.17922013_17922014del	GRCh37
NC_000008.9:g.17966293_17966294del	NCBI36
NG_008985.1:g.25495_25496del
NG_008985.2:g.25495_25496del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381733.9:c.458_459del	ENSP00000371152.4:p.Tyr153Ter
ENST00000519545.6:n.427_428del
ENST00000520781.6:c.383-1274_383-1273del	ENSP00000427751.1:n.383-1274_383-1273del
ENST00000523593.6:c.*253_*254del	ENSP00000490700.1:n.*253_*254del
ENST00000523744.2:n.4168_4169del
ENST00000635769.1:c.431_432del	ENSP00000490485.1:p.Tyr144Ter
ENST00000635944.1:c.*246_*247del	ENSP00000490195.1:n.*246_*247del
ENST00000635998.1:c.410_411del	ENSP00000490506.1:p.Tyr137Ter
ENST00000636009.1:c.315-1274_315-1273del	ENSP00000489988.1:n.315-1274_315-1273del
ENST00000636033.1:c.*246_*247del	ENSP00000489617.1:n.*246_*247del
ENST00000636050.1:c.*253_*254del	ENSP00000490562.1:n.*253_*254del
ENST00000636128.1:c.382+2716_382+2717del	ENSP00000489789.1:n.382+2716_382+2717del
ENST00000636160.1:c.*302_*303del	ENSP00000489651.1:n.*302_*303del
ENST00000636171.1:c.383-30_383-29del	ENSP00000489761.1:n.383-30_383-29del
ENST00000636299.1:c.*181_*182del	ENSP00000490202.1:n.*181_*182del
ENST00000636435.1:n.3182_3183del
ENST00000636455.1:c.458_459del	ENSP00000490502.1:p.Tyr153Ter
ENST00000636494.1:c.*190_*191del	ENSP00000490388.1:n.*190_*191del
ENST00000636563.1:n.72_73del
ENST00000636577.1:c.383-33_383-32del	ENSP00000490027.1:n.383-33_383-32del
ENST00000636691.1:c.215_216del	ENSP00000490725.1:p.Tyr72Ter
ENST00000636701.1:c.*61_*62del	ENSP00000489800.1:n.*61_*62del
ENST00000636815.1:c.327_328del
ENST00000636823.1:c.215_216del	ENSP00000490798.1:p.Tyr72Ter
ENST00000636828.1:n.3274_3275del
ENST00000636920.1:c.*246_*247del	ENSP00000490437.1:n.*246_*247del
ENST00000636997.1:c.323_324del	ENSP00000490093.1:p.Tyr108Ter
ENST00000637013.1:c.*622_*623del	ENSP00000490596.1:n.*622_*623del
ENST00000637095.1:c.*190_*191del	ENSP00000490415.1:n.*190_*191del
ENST00000637244.1:c.*928_*929del	ENSP00000490188.1:n.*928_*929del
ENST00000637343.1:n.621_622del
ENST00000637429.1:c.*622_*623del	ENSP00000490522.1:n.*622_*623del
ENST00000637484.1:c.*420-1274_*420-1273del	ENSP00000490837.1:n.*420-1274_*420-1273del
ENST00000637528.1:c.383-36_383-35del	ENSP00000490801.1:n.383-36_383-35del
ENST00000637603.1:c.380_381del	ENSP00000489979.1:p.Tyr127Ter
ENST00000637609.1:n.3131_3132del
ENST00000637636.1:c.404_405del	ENSP00000490112.1:p.Tyr135Ter
ENST00000637638.1:c.410_411del	ENSP00000490774.1:p.Tyr137Ter
ENST00000637718.1:c.215_216del	ENSP00000490133.1:p.Tyr72Ter
ENST00000637790.2:c.410_411del MANE Select	ENSP00000490272.1:p.Tyr137Ter
ENST00000637857.1:n.105-2081_105-2080del
ENST00000637922.1:c.215_216del	ENSP00000490071.1:p.Tyr72Ter
ENST00000637991.1:c.431-1274_431-1273del	ENSP00000489901.1:n.431-1274_431-1273del
ENST00000638069.1:n.466_467del
ENST00000262097.10:c.410_411del	ENSP00000262097.6:p.Tyr137Ter
ENST00000314146.10:c.392_393del	ENSP00000326970.10:p.Tyr131Ter
ENST00000381733.8:c.458_459del	ENSP00000371152.4:p.Tyr153Ter
ENST00000519468.5:n.389-2137_389-2136del
ENST00000519545.5:n.424_425del
ENST00000520781.5:c.383-1274_383-1273del	ENSP00000427751.1:n.383-1274_383-1273del
ENST00000523593.5:n.263_264del
ENST00000523744.1:n.413_414del
NM_001127505.1:c.392_393del	NP_001120977.1:p.Tyr131Ter
NM_001127505.2:c.392_393del	NP_001120977.1:p.Tyr131Ter
NM_004315.4:c.458_459del	NP_004306.3:p.Tyr153Ter
NM_004315.5:c.458_459del	NP_004306.3:p.Tyr153Ter
NM_177924.3:c.410_411del	NP_808592.2:p.Tyr137Ter
NM_177924.4:c.410_411del	NP_808592.2:p.Tyr137Ter
XM_005273504.2:c.344_345del	XP_005273561.1:p.Tyr115Ter
NM_001363743.1:c.215_216del	NP_001350672.1:p.Tyr72Ter
XM_005273504.3:c.344_345del	XP_005273561.1:p.Tyr115Ter
NM_177924.5:c.410_411del MANE Select	NP_808592.2:p.Tyr137Ter
NM_001127505.3:c.392_393del	NP_001120977.1:p.Tyr131Ter
NM_001363743.2:c.215_216del	NP_001350672.1:p.Tyr72Ter
NM_004315.6:c.458_459del	NP_004306.3:p.Tyr153Ter