Canonical Allele Identifier: CA173143564

Gene: ASAH1

Linked Data

• ClinVar Variation Id: 1276658
• ClinVar RCV Id: RCV001687850
• dbSNP Id: rs138483601
• gnomAD v2: 8-17922112-AGTTTCAGT-A
• gnomAD v3: 8-18064603-AGTTTCAGT-A
• gnomAD v4: 8-18064603-AGTTTCAGT-A
• MyVariant Identifiers: chr8:g.17922113_17922120del (hg19) ; chr8:g.18064604_18064611del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.18064608_18064615del , CM000670.2:g.18064608_18064615del	GRCh38
NC_000008.10:g.17922117_17922124del , CM000670.1:g.17922117_17922124del	GRCh37
NC_000008.9:g.17966397_17966404del	NCBI36
NG_008985.1:g.25388_25395del
NG_008985.2:g.25388_25395del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381733.9:c.431-80_431-73del	ENSP00000371152.4:n.431-80_431-73del
ENST00000519545.6:n.400-80_400-73del
ENST00000520781.6:c.383-1381_383-1374del	ENSP00000427751.1:n.383-1381_383-1374del
ENST00000523593.6:c.*226-80_*226-73del	ENSP00000490700.1:n.*226-80_*226-73del
ENST00000523744.2:n.4061_4068del
ENST00000635769.1:c.404-80_404-73del	ENSP00000490485.1:n.404-80_404-73del
ENST00000635944.1:c.*219-80_*219-73del	ENSP00000490195.1:n.*219-80_*219-73del
ENST00000635998.1:c.383-80_383-73del	ENSP00000490506.1:n.383-80_383-73del
ENST00000636009.1:c.315-1381_315-1374del	ENSP00000489988.1:n.315-1381_315-1374del
ENST00000636033.1:c.*219-80_*219-73del	ENSP00000489617.1:n.*219-80_*219-73del
ENST00000636050.1:c.*226-80_*226-73del	ENSP00000490562.1:n.*226-80_*226-73del
ENST00000636128.1:c.382+2609_382+2616del	ENSP00000489789.1:n.382+2609_382+2616del
ENST00000636160.1:c.*275-80_*275-73del	ENSP00000489651.1:n.*275-80_*275-73del
ENST00000636171.1:c.383-137_383-130del	ENSP00000489761.1:n.383-137_383-130del
ENST00000636299.1:c.*154-80_*154-73del	ENSP00000490202.1:n.*154-80_*154-73del
ENST00000636435.1:n.3075_3082del
ENST00000636455.1:c.431-80_431-73del	ENSP00000490502.1:n.431-80_431-73del
ENST00000636494.1:c.*163-80_*163-73del	ENSP00000490388.1:n.*163-80_*163-73del
ENST00000636563.1:n.45-80_45-73del
ENST00000636577.1:c.383-140_383-133del	ENSP00000490027.1:n.383-140_383-133del
ENST00000636691.1:c.188-80_188-73del	ENSP00000490725.1:n.188-80_188-73del
ENST00000636701.1:c.*34-80_*34-73del	ENSP00000489800.1:n.*34-80_*34-73del
ENST00000636815.1:c.300-80_300-73del
ENST00000636823.1:c.188-80_188-73del	ENSP00000490798.1:n.188-80_188-73del
ENST00000636828.1:n.3167_3174del
ENST00000636920.1:c.*219-80_*219-73del	ENSP00000490437.1:n.*219-80_*219-73del
ENST00000636997.1:c.296-80_296-73del	ENSP00000490093.1:n.296-80_296-73del
ENST00000637013.1:c.*595-80_*595-73del	ENSP00000490596.1:n.*595-80_*595-73del
ENST00000637095.1:c.*163-80_*163-73del	ENSP00000490415.1:n.*163-80_*163-73del
ENST00000637244.1:c.*901-80_*901-73del	ENSP00000490188.1:n.*901-80_*901-73del
ENST00000637343.1:n.514_521del
ENST00000637429.1:c.*595-80_*595-73del	ENSP00000490522.1:n.*595-80_*595-73del
ENST00000637484.1:c.*420-1381_*420-1374del	ENSP00000490837.1:n.*420-1381_*420-1374del
ENST00000637528.1:c.383-143_383-136del	ENSP00000490801.1:n.383-143_383-136del
ENST00000637603.1:c.353-80_353-73del	ENSP00000489979.1:n.353-80_353-73del
ENST00000637609.1:n.3024_3031del
ENST00000637636.1:c.377-80_377-73del	ENSP00000490112.1:n.377-80_377-73del
ENST00000637638.1:c.383-80_383-73del	ENSP00000490774.1:n.383-80_383-73del
ENST00000637718.1:c.188-80_188-73del	ENSP00000490133.1:n.188-80_188-73del
ENST00000637790.2:c.383-80_383-73del MANE Select	ENSP00000490272.1:n.383-80_383-73del
ENST00000637857.1:n.105-2188_105-2181del
ENST00000637922.1:c.188-80_188-73del	ENSP00000490071.1:n.188-80_188-73del
ENST00000637991.1:c.431-1381_431-1374del	ENSP00000489901.1:n.431-1381_431-1374del
ENST00000638069.1:n.439-80_439-73del
ENST00000262097.10:c.383-80_383-73del	ENSP00000262097.6:n.383-80_383-73del
ENST00000314146.10:c.365-80_365-73del	ENSP00000326970.10:n.365-80_365-73del
ENST00000381733.8:c.431-80_431-73del	ENSP00000371152.4:n.431-80_431-73del
ENST00000519468.5:n.389-2244_389-2237del
ENST00000519545.5:n.397-80_397-73del
ENST00000520781.5:c.383-1381_383-1374del	ENSP00000427751.1:n.383-1381_383-1374del
ENST00000523593.5:n.236-80_236-73del
ENST00000523744.1:n.306_313del
NM_001127505.1:c.365-80_365-73del	NP_001120977.1:n.365-80_365-73del
NM_001127505.2:c.365-80_365-73del	NP_001120977.1:n.365-80_365-73del
NM_004315.4:c.431-80_431-73del	NP_004306.3:n.431-80_431-73del
NM_004315.5:c.431-80_431-73del	NP_004306.3:n.431-80_431-73del
NM_177924.3:c.383-80_383-73del	NP_808592.2:n.383-80_383-73del
NM_177924.4:c.383-80_383-73del	NP_808592.2:n.383-80_383-73del
XM_005273504.2:c.317-80_317-73del	XP_005273561.1:n.317-80_317-73del
NM_001363743.1:c.188-80_188-73del	NP_001350672.1:n.188-80_188-73del
XM_005273504.3:c.317-80_317-73del	XP_005273561.1:n.317-80_317-73del
NM_177924.5:c.383-80_383-73del MANE Select	NP_808592.2:n.383-80_383-73del
NM_001127505.3:c.365-80_365-73del	NP_001120977.1:n.365-80_365-73del
NM_001363743.2:c.188-80_188-73del	NP_001350672.1:n.188-80_188-73del
NM_004315.6:c.431-80_431-73del	NP_004306.3:n.431-80_431-73del