Canonical Allele Identifier: CA144006

Gene: ASAH1

Linked Data

• MyVariant Identifiers: chr8:g.17923370_17932841del (hg19) ; chr8:g.18065861_18075332del (hg38)
• PubMed: PMID:23707712

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.18065861_18075332del , CM000670.2:g.18065861_18075332del	GRCh38
NC_000008.10:g.17923370_17932841del , CM000670.1:g.17923370_17932841del	GRCh37
NC_000008.9:g.17967650_17977121del	NCBI36
NG_008985.1:g.14667_24138del
NG_008985.2:g.14667_24138del

Transcript Alleles

HGVS	Amino-acid change
ENST00000381733.9:c.173+209_431-1330del
ENST00000519545.6:n.142+209_400-1330del
ENST00000520781.6:c.125+209_382+1359del
ENST00000523593.6:c.118+209_*226-1330del
ENST00000635769.1:c.125+209_404-1330del
ENST00000635944.1:c.189+209_*219-1330del
ENST00000635998.1:c.125+209_383-1330del
ENST00000636009.1:c.57+209_314+1359del
ENST00000636033.1:c.207+209_*219-1330del
ENST00000636050.1:c.262+209_*226-1330del
ENST00000636128.1:c.125+209_382+1359del
ENST00000636160.1:c.125+209_*275-1330del
ENST00000636171.1:c.125+209_382+1359del
ENST00000636299.1:c.173+209_*154-1330del
ENST00000636435.1:n.209+209_1825del
ENST00000636455.1:c.173+209_431-1330del
ENST00000636494.1:c.125+209_*163-1330del
ENST00000636577.1:c.125+209_382+1359del
ENST00000636691.1:c.-71+209_188-1330del
ENST00000636701.1:c.125+209_*34-1330del
ENST00000636815.1:c.133+209_300-1330del
ENST00000636823.1:c.-71+209_188-1330del
ENST00000636828.1:n.301+209_1917del
ENST00000636920.1:c.165+209_*219-1330del
ENST00000636997.1:c.125+209_296-1330del
ENST00000637013.1:c.*337+209_*595-1330del
ENST00000637095.1:c.125+209_*163-1330del
ENST00000637244.1:c.*643+209_*901-1330del
ENST00000637429.1:c.*337+209_*595-1330del
ENST00000637484.1:c.*162+209_*419+1359del
ENST00000637528.1:c.125+209_382+1359del
ENST00000637603.1:c.125+209_353-1330del
ENST00000637609.1:n.158+209_1774del
ENST00000637636.1:c.125+209_377-1330del
ENST00000637638.1:c.125+209_383-1330del
ENST00000637718.1:c.-71+209_188-1330del
ENST00000637790.2:c.125+209_383-1330del
ENST00000637922.1:c.-71+209_188-1330del
ENST00000637991.1:c.173+209_430+1359del
ENST00000638069.1:n.181+209_439-1330del
ENST00000262097.10:c.125+209_383-1330del
ENST00000314146.10:c.173+209_365-1330del
ENST00000381733.8:c.173+209_431-1330del
ENST00000519468.5:n.131+209_388+1359del
ENST00000519545.5:n.139+209_397-1330del
ENST00000520781.5:c.125+209_382+1359del
ENST00000523593.5:n.156+209_236-1330del
NM_001127505.1:c.173+209_365-1330del
NM_001127505.2:c.173+209_365-1330del
NM_004315.4:c.173+209_431-1330del
NM_004315.5:c.173+209_431-1330del
NM_177924.3:c.125+209_383-1330del
NM_177924.4:c.125+209_383-1330del
XM_005273504.2:c.59+209_317-1330del
NM_001363743.1:c.-71+209_188-1330del
XM_005273504.3:c.59+209_317-1330del
NM_177924.5:c.125+209_383-1330del
NM_001127505.3:c.173+209_365-1330del
NM_001363743.2:c.-71+209_188-1330del
NM_004315.6:c.173+209_431-1330del