Canonical Allele Identifier: CA4650865

Gene: ASAH1

Linked Data

• ClinVar Variation Id: 812484
• ClinVar RCV Id: RCV001003314
• dbSNP Id: rs761372687
• ExAC: 8:17922045 GAGAAA / G
• gnomAD v2: 8-17922045-GAGAAA-G
• gnomAD v4: 8-18064536-GAGAAA-G
• MyVariant Identifiers: chr8:g.17922046_17922050del (hg19) ; chr8:g.18064537_18064541del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.18064543_18064547del , CM000670.2:g.18064543_18064547del	GRCh38
NC_000008.10:g.17922052_17922056del , CM000670.1:g.17922052_17922056del	GRCh37
NC_000008.9:g.17966332_17966336del	NCBI36
NG_008985.1:g.25458_25462del
NG_008985.2:g.25458_25462del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381733.9:c.431-10_431-6del	ENSP00000371152.4:n.431-10_431-6del
ENST00000519545.6:n.400-10_400-6del
ENST00000520781.6:c.383-1311_383-1307del	ENSP00000427751.1:n.383-1311_383-1307del
ENST00000523593.6:c.*226-10_*226-6del	ENSP00000490700.1:n.*226-10_*226-6del
ENST00000523744.2:n.4131_4135del
ENST00000635769.1:c.404-10_404-6del	ENSP00000490485.1:n.404-10_404-6del
ENST00000635944.1:c.*219-10_*219-6del	ENSP00000490195.1:n.*219-10_*219-6del
ENST00000635998.1:c.383-10_383-6del	ENSP00000490506.1:n.383-10_383-6del
ENST00000636009.1:c.315-1311_315-1307del	ENSP00000489988.1:n.315-1311_315-1307del
ENST00000636033.1:c.*219-10_*219-6del	ENSP00000489617.1:n.*219-10_*219-6del
ENST00000636050.1:c.*226-10_*226-6del	ENSP00000490562.1:n.*226-10_*226-6del
ENST00000636128.1:c.382+2679_382+2683del	ENSP00000489789.1:n.382+2679_382+2683del
ENST00000636160.1:c.*275-10_*275-6del	ENSP00000489651.1:n.*275-10_*275-6del
ENST00000636171.1:c.383-67_383-63del	ENSP00000489761.1:n.383-67_383-63del
ENST00000636299.1:c.*154-10_*154-6del	ENSP00000490202.1:n.*154-10_*154-6del
ENST00000636435.1:n.3145_3149del
ENST00000636455.1:c.431-10_431-6del	ENSP00000490502.1:n.431-10_431-6del
ENST00000636494.1:c.*163-10_*163-6del	ENSP00000490388.1:n.*163-10_*163-6del
ENST00000636563.1:n.45-10_45-6del
ENST00000636577.1:c.383-70_383-66del	ENSP00000490027.1:n.383-70_383-66del
ENST00000636691.1:c.188-10_188-6del	ENSP00000490725.1:n.188-10_188-6del
ENST00000636701.1:c.*34-10_*34-6del	ENSP00000489800.1:n.*34-10_*34-6del
ENST00000636815.1:c.300-10_300-6del
ENST00000636823.1:c.188-10_188-6del	ENSP00000490798.1:n.188-10_188-6del
ENST00000636828.1:n.3237_3241del
ENST00000636920.1:c.*219-10_*219-6del	ENSP00000490437.1:n.*219-10_*219-6del
ENST00000636997.1:c.296-10_296-6del	ENSP00000490093.1:n.296-10_296-6del
ENST00000637013.1:c.*595-10_*595-6del	ENSP00000490596.1:n.*595-10_*595-6del
ENST00000637095.1:c.*163-10_*163-6del	ENSP00000490415.1:n.*163-10_*163-6del
ENST00000637244.1:c.*901-10_*901-6del	ENSP00000490188.1:n.*901-10_*901-6del
ENST00000637343.1:n.584_588del
ENST00000637429.1:c.*595-10_*595-6del	ENSP00000490522.1:n.*595-10_*595-6del
ENST00000637484.1:c.*420-1311_*420-1307del	ENSP00000490837.1:n.*420-1311_*420-1307del
ENST00000637528.1:c.383-73_383-69del	ENSP00000490801.1:n.383-73_383-69del
ENST00000637603.1:c.353-10_353-6del	ENSP00000489979.1:n.353-10_353-6del
ENST00000637609.1:n.3094_3098del
ENST00000637636.1:c.377-10_377-6del	ENSP00000490112.1:n.377-10_377-6del
ENST00000637638.1:c.383-10_383-6del	ENSP00000490774.1:n.383-10_383-6del
ENST00000637718.1:c.188-10_188-6del	ENSP00000490133.1:n.188-10_188-6del
ENST00000637790.2:c.383-10_383-6del MANE Select	ENSP00000490272.1:n.383-10_383-6del
ENST00000637857.1:n.105-2118_105-2114del
ENST00000637922.1:c.188-10_188-6del	ENSP00000490071.1:n.188-10_188-6del
ENST00000637991.1:c.431-1311_431-1307del	ENSP00000489901.1:n.431-1311_431-1307del
ENST00000638069.1:n.439-10_439-6del
ENST00000262097.10:c.383-10_383-6del	ENSP00000262097.6:n.383-10_383-6del
ENST00000314146.10:c.365-10_365-6del	ENSP00000326970.10:n.365-10_365-6del
ENST00000381733.8:c.431-10_431-6del	ENSP00000371152.4:n.431-10_431-6del
ENST00000519468.5:n.389-2174_389-2170del
ENST00000519545.5:n.397-10_397-6del
ENST00000520781.5:c.383-1311_383-1307del	ENSP00000427751.1:n.383-1311_383-1307del
ENST00000523593.5:n.236-10_236-6del
ENST00000523744.1:n.376_380del
NM_001127505.1:c.365-10_365-6del	NP_001120977.1:n.365-10_365-6del
NM_001127505.2:c.365-10_365-6del	NP_001120977.1:n.365-10_365-6del
NM_004315.4:c.431-10_431-6del	NP_004306.3:n.431-10_431-6del
NM_004315.5:c.431-10_431-6del	NP_004306.3:n.431-10_431-6del
NM_177924.3:c.383-10_383-6del	NP_808592.2:n.383-10_383-6del
NM_177924.4:c.383-10_383-6del	NP_808592.2:n.383-10_383-6del
XM_005273504.2:c.317-10_317-6del	XP_005273561.1:n.317-10_317-6del
NM_001363743.1:c.188-10_188-6del	NP_001350672.1:n.188-10_188-6del
XM_005273504.3:c.317-10_317-6del	XP_005273561.1:n.317-10_317-6del
NM_177924.5:c.383-10_383-6del MANE Select	NP_808592.2:n.383-10_383-6del
NM_001127505.3:c.365-10_365-6del	NP_001120977.1:n.365-10_365-6del
NM_001363743.2:c.188-10_188-6del	NP_001350672.1:n.188-10_188-6del
NM_004315.6:c.431-10_431-6del	NP_004306.3:n.431-10_431-6del