Canonical Allele Identifier: CA2686315396

Gene: ASAH1

Linked Data

• gnomAD v4: 8-18064860-CTGGCTCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.18064866_18064872del , CM000670.2:g.18064866_18064872del	GRCh38
NC_000008.10:g.17922375_17922381del , CM000670.1:g.17922375_17922381del	GRCh37
NC_000008.9:g.17966655_17966661del	NCBI36
NG_008985.1:g.25132_25138del
NG_008985.2:g.25132_25138del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381733.9:c.431-336_431-330del	ENSP00000371152.4:n.431-336_431-330del
ENST00000519545.6:n.400-336_400-330del
ENST00000520781.6:c.383-1637_383-1631del	ENSP00000427751.1:n.383-1637_383-1631del
ENST00000523593.6:c.*226-336_*226-330del	ENSP00000490700.1:n.*226-336_*226-330del
ENST00000523744.2:n.3805_3811del
ENST00000635769.1:c.404-336_404-330del	ENSP00000490485.1:n.404-336_404-330del
ENST00000635944.1:c.*219-336_*219-330del	ENSP00000490195.1:n.*219-336_*219-330del
ENST00000635998.1:c.383-336_383-330del	ENSP00000490506.1:n.383-336_383-330del
ENST00000636009.1:c.315-1637_315-1631del	ENSP00000489988.1:n.315-1637_315-1631del
ENST00000636033.1:c.*219-336_*219-330del	ENSP00000489617.1:n.*219-336_*219-330del
ENST00000636050.1:c.*226-336_*226-330del	ENSP00000490562.1:n.*226-336_*226-330del
ENST00000636128.1:c.382+2353_382+2359del	ENSP00000489789.1:n.382+2353_382+2359del
ENST00000636160.1:c.*275-336_*275-330del	ENSP00000489651.1:n.*275-336_*275-330del
ENST00000636171.1:c.383-393_383-387del	ENSP00000489761.1:n.383-393_383-387del
ENST00000636299.1:c.*154-336_*154-330del	ENSP00000490202.1:n.*154-336_*154-330del
ENST00000636435.1:n.2819_2825del
ENST00000636455.1:c.431-336_431-330del	ENSP00000490502.1:n.431-336_431-330del
ENST00000636494.1:c.*163-336_*163-330del	ENSP00000490388.1:n.*163-336_*163-330del
ENST00000636577.1:c.383-396_383-390del	ENSP00000490027.1:n.383-396_383-390del
ENST00000636691.1:c.188-336_188-330del	ENSP00000490725.1:n.188-336_188-330del
ENST00000636701.1:c.*34-336_*34-330del	ENSP00000489800.1:n.*34-336_*34-330del
ENST00000636815.1:c.300-336_300-330del
ENST00000636823.1:c.188-336_188-330del	ENSP00000490798.1:n.188-336_188-330del
ENST00000636828.1:n.2911_2917del
ENST00000636920.1:c.*219-336_*219-330del	ENSP00000490437.1:n.*219-336_*219-330del
ENST00000636997.1:c.296-336_296-330del	ENSP00000490093.1:n.296-336_296-330del
ENST00000637013.1:c.*595-336_*595-330del	ENSP00000490596.1:n.*595-336_*595-330del
ENST00000637095.1:c.*163-336_*163-330del	ENSP00000490415.1:n.*163-336_*163-330del
ENST00000637244.1:c.*901-336_*901-330del	ENSP00000490188.1:n.*901-336_*901-330del
ENST00000637343.1:n.258_264del
ENST00000637429.1:c.*595-336_*595-330del	ENSP00000490522.1:n.*595-336_*595-330del
ENST00000637484.1:c.*420-1637_*420-1631del	ENSP00000490837.1:n.*420-1637_*420-1631del
ENST00000637528.1:c.383-399_383-393del	ENSP00000490801.1:n.383-399_383-393del
ENST00000637603.1:c.353-336_353-330del	ENSP00000489979.1:n.353-336_353-330del
ENST00000637609.1:n.2768_2774del
ENST00000637636.1:c.377-336_377-330del	ENSP00000490112.1:n.377-336_377-330del
ENST00000637638.1:c.383-336_383-330del	ENSP00000490774.1:n.383-336_383-330del
ENST00000637718.1:c.188-336_188-330del	ENSP00000490133.1:n.188-336_188-330del
ENST00000637790.2:c.383-336_383-330del MANE Select	ENSP00000490272.1:n.383-336_383-330del
ENST00000637857.1:n.104+2353_104+2359del
ENST00000637922.1:c.188-336_188-330del	ENSP00000490071.1:n.188-336_188-330del
ENST00000637991.1:c.431-1637_431-1631del	ENSP00000489901.1:n.431-1637_431-1631del
ENST00000638069.1:n.439-336_439-330del
ENST00000262097.10:c.383-336_383-330del	ENSP00000262097.6:n.383-336_383-330del
ENST00000314146.10:c.365-336_365-330del	ENSP00000326970.10:n.365-336_365-330del
ENST00000381733.8:c.431-336_431-330del	ENSP00000371152.4:n.431-336_431-330del
ENST00000519468.5:n.388+2353_388+2359del
ENST00000519545.5:n.397-336_397-330del
ENST00000520781.5:c.383-1637_383-1631del	ENSP00000427751.1:n.383-1637_383-1631del
ENST00000523593.5:n.236-336_236-330del
ENST00000523744.1:n.50_56del
NM_001127505.1:c.365-336_365-330del	NP_001120977.1:n.365-336_365-330del
NM_001127505.2:c.365-336_365-330del	NP_001120977.1:n.365-336_365-330del
NM_004315.4:c.431-336_431-330del	NP_004306.3:n.431-336_431-330del
NM_004315.5:c.431-336_431-330del	NP_004306.3:n.431-336_431-330del
NM_177924.3:c.383-336_383-330del	NP_808592.2:n.383-336_383-330del
NM_177924.4:c.383-336_383-330del	NP_808592.2:n.383-336_383-330del
XM_005273504.2:c.317-336_317-330del	XP_005273561.1:n.317-336_317-330del
NM_001363743.1:c.188-336_188-330del	NP_001350672.1:n.188-336_188-330del
XM_005273504.3:c.317-336_317-330del	XP_005273561.1:n.317-336_317-330del
NM_177924.5:c.383-336_383-330del MANE Select	NP_808592.2:n.383-336_383-330del
NM_001127505.3:c.365-336_365-330del	NP_001120977.1:n.365-336_365-330del
NM_001363743.2:c.188-336_188-330del	NP_001350672.1:n.188-336_188-330del
NM_004315.6:c.431-336_431-330del	NP_004306.3:n.431-336_431-330del