Canonical Allele Identifier: CA2580078029

Gene: ASAH1

Linked Data

• ClinVar Variation Id: 2088721
• ClinVar RCV Id: RCV003018171
• gnomAD v4: 8-18071307-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.18071309del , CM000670.2:g.18071309del	GRCh38
NC_000008.10:g.17928818del , CM000670.1:g.17928818del	GRCh37
NC_000008.9:g.17973098del	NCBI36
NG_008985.1:g.18691del
NG_008985.2:g.18691del

Transcript Alleles

HGVS	Amino-acid change
ENST00000381733.9:c.256del	ENSP00000371152.4:p.Ala86HisfsTer4
ENST00000518087.7:c.*44del	ENSP00000490753.1:n.*44del
ENST00000519545.6:n.225del
ENST00000520781.6:c.208del	ENSP00000427751.1:p.Ala70HisfsTer4
ENST00000523593.6:c.*51del	ENSP00000490700.1:n.*51del
ENST00000635769.1:c.229del	ENSP00000490485.1:p.Ala77HisfsTer4
ENST00000635944.1:c.*44del	ENSP00000490195.1:n.*44del
ENST00000635998.1:c.208del	ENSP00000490506.1:p.Ala70HisfsTer4
ENST00000636009.1:c.140del	ENSP00000489988.1:n.140del
ENST00000636033.1:c.*44del	ENSP00000489617.1:n.*44del
ENST00000636050.1:c.*51del	ENSP00000490562.1:n.*51del
ENST00000636128.1:c.208del	ENSP00000489789.1:p.Ala70HisfsTer4
ENST00000636160.1:c.*100del	ENSP00000489651.1:n.*100del
ENST00000636171.1:c.208del	ENSP00000489761.1:p.Ala70HisfsTer4
ENST00000636269.1:c.13del	ENSP00000490738.1:p.Ala5HisfsTer4
ENST00000636299.1:c.174-1436del	ENSP00000490202.1:n.174-1436del
ENST00000636435.1:n.292del
ENST00000636455.1:c.256del	ENSP00000490502.1:p.Ala86HisfsTer4
ENST00000636494.1:c.126-1430del	ENSP00000490388.1:n.126-1430del
ENST00000636537.1:c.256del	ENSP00000489914.1:p.Ala86HisfsTer4
ENST00000636577.1:c.208del	ENSP00000490027.1:p.Ala70HisfsTer4
ENST00000636691.1:c.13del	ENSP00000490725.1:p.Ala5HisfsTer4
ENST00000636701.1:c.126-4010del	ENSP00000489800.1:n.126-4010del
ENST00000636715.1:c.174-1430del	ENSP00000490876.1:n.174-1430del
ENST00000636815.1:c.134-1430del
ENST00000636823.1:c.13del	ENSP00000490798.1:p.Ala5HisfsTer4
ENST00000636828.1:n.384del
ENST00000636920.1:c.*44del	ENSP00000490437.1:n.*44del
ENST00000636997.1:c.208del	ENSP00000490093.1:p.Ala70HisfsTer18
ENST00000637013.1:c.*420del	ENSP00000490596.1:n.*420del
ENST00000637095.1:c.185+23del	ENSP00000490415.1:n.185+23del
ENST00000637202.1:c.126-1430del	ENSP00000490129.1:n.126-1430del
ENST00000637244.1:c.*726del	ENSP00000490188.1:n.*726del
ENST00000637429.1:c.*420del	ENSP00000490522.1:n.*420del
ENST00000637484.1:c.*245del	ENSP00000490837.1:n.*245del
ENST00000637528.1:c.208del	ENSP00000490801.1:p.Ala70HisfsTer4
ENST00000637561.1:c.208del	ENSP00000490536.1:p.Ala70HisfsTer4
ENST00000637603.1:c.208del	ENSP00000489979.1:p.Ala70HisfsTer4
ENST00000637609.1:n.241del
ENST00000637636.1:c.208del	ENSP00000490112.1:p.Ala70HisfsTer5
ENST00000637638.1:c.208del	ENSP00000490774.1:p.Ala70HisfsTer4
ENST00000637718.1:c.13del	ENSP00000490133.1:p.Ala5HisfsTer4
ENST00000637790.2:c.208del MANE Select	ENSP00000490272.1:p.Ala70HisfsTer4
ENST00000637792.1:c.256del	ENSP00000490423.1:p.Ala86HisfsTer5
ENST00000637805.1:c.*44del	ENSP00000489884.1:n.*44del
ENST00000637872.1:c.13del	ENSP00000490432.1:p.Ala5HisfsTer4
ENST00000637898.1:n.238del
ENST00000637922.1:c.13del	ENSP00000490071.1:p.Ala5HisfsTer4
ENST00000637991.1:c.256del	ENSP00000489901.1:p.Ala86HisfsTer4
ENST00000638069.1:n.264del
ENST00000262097.10:c.208del	ENSP00000262097.6:p.Ala70HisfsTer4
ENST00000314146.10:c.277del	ENSP00000326970.10:p.Ala93HisfsTer18
ENST00000381733.8:c.256del	ENSP00000371152.4:p.Ala86HisfsTer4
ENST00000518087.6:n.256del
ENST00000519468.5:n.214del
ENST00000519545.5:n.222del
ENST00000520781.5:c.208del	ENSP00000427751.1:p.Ala70HisfsTer4
ENST00000523593.5:n.157-4010del
NM_001127505.1:c.277del	NP_001120977.1:p.Ala93HisfsTer18
NM_001127505.2:c.277del	NP_001120977.1:p.Ala93HisfsTer18
NM_004315.4:c.256del	NP_004306.3:p.Ala86HisfsTer4
NM_004315.5:c.256del	NP_004306.3:p.Ala86HisfsTer4
NM_177924.3:c.208del	NP_808592.2:p.Ala70HisfsTer4
NM_177924.4:c.208del	NP_808592.2:p.Ala70HisfsTer4
XM_005273504.2:c.142del	XP_005273561.1:p.Ala48HisfsTer4
NM_001363743.1:c.13del	NP_001350672.1:p.Ala5HisfsTer4
XM_005273504.3:c.142del	XP_005273561.1:p.Ala48HisfsTer4
NM_177924.5:c.208del MANE Select	NP_808592.2:p.Ala70HisfsTer4
NM_001127505.3:c.277del	NP_001120977.1:p.Ala93HisfsTer18
NM_001363743.2:c.13del	NP_001350672.1:p.Ala5HisfsTer4
NM_004315.6:c.256del	NP_004306.3:p.Ala86HisfsTer4