Canonical Allele Identifier: CA1768025463

Gene: ASAH1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.18064550_18064552delinsTTG , CM000670.2:g.18064550_18064552delinsTTG	GRCh38
NC_000008.10:g.17922059_17922061delinsTTG , CM000670.1:g.17922059_17922061delinsTTG	GRCh37
NC_000008.9:g.17966339_17966341delinsTTG	NCBI36
NG_008985.1:g.25447_25449delinsCAA
NG_008985.2:g.25447_25449delinsCAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381733.9:c.431-21_431-19delinsCAA	ENSP00000371152.4:n.431-21_431-19delinsCAA
ENST00000519545.6:n.400-21_400-19delinsCAA
ENST00000520781.6:c.383-1322_383-1320delinsCAA	ENSP00000427751.1:n.383-1322_383-1320delinsCAA
ENST00000523593.6:c.*226-21_*226-19delinsCAA	ENSP00000490700.1:n.*226-21_*226-19delinsCAA
ENST00000523744.2:n.4120_4122delinsCAA
ENST00000635769.1:c.404-21_404-19delinsCAA	ENSP00000490485.1:n.404-21_404-19delinsCAA
ENST00000635944.1:c.*219-21_*219-19delinsCAA	ENSP00000490195.1:n.*219-21_*219-19delinsCAA
ENST00000635998.1:c.383-21_383-19delinsCAA	ENSP00000490506.1:n.383-21_383-19delinsCAA
ENST00000636009.1:c.315-1322_315-1320delinsCAA	ENSP00000489988.1:n.315-1322_315-1320delinsCAA
ENST00000636033.1:c.*219-21_*219-19delinsCAA	ENSP00000489617.1:n.*219-21_*219-19delinsCAA
ENST00000636050.1:c.*226-21_*226-19delinsCAA	ENSP00000490562.1:n.*226-21_*226-19delinsCAA
ENST00000636128.1:c.382+2668_382+2670delinsCAA	ENSP00000489789.1:n.382+2668_382+2670delinsCAA
ENST00000636160.1:c.*275-21_*275-19delinsCAA	ENSP00000489651.1:n.*275-21_*275-19delinsCAA
ENST00000636171.1:c.383-78_383-76delinsCAA	ENSP00000489761.1:n.383-78_383-76delinsCAA
ENST00000636299.1:c.*154-21_*154-19delinsCAA	ENSP00000490202.1:n.*154-21_*154-19delinsCAA
ENST00000636435.1:n.3134_3136delinsCAA
ENST00000636455.1:c.431-21_431-19delinsCAA	ENSP00000490502.1:n.431-21_431-19delinsCAA
ENST00000636494.1:c.*163-21_*163-19delinsCAA	ENSP00000490388.1:n.*163-21_*163-19delinsCAA
ENST00000636563.1:n.45-21_45-19delinsCAA
ENST00000636577.1:c.383-81_383-79delinsCAA	ENSP00000490027.1:n.383-81_383-79delinsCAA
ENST00000636691.1:c.188-21_188-19delinsCAA	ENSP00000490725.1:n.188-21_188-19delinsCAA
ENST00000636701.1:c.*34-21_*34-19delinsCAA	ENSP00000489800.1:n.*34-21_*34-19delinsCAA
ENST00000636815.1:c.300-21_300-19delinsCAA
ENST00000636823.1:c.188-21_188-19delinsCAA	ENSP00000490798.1:n.188-21_188-19delinsCAA
ENST00000636828.1:n.3226_3228delinsCAA
ENST00000636920.1:c.*219-21_*219-19delinsCAA	ENSP00000490437.1:n.*219-21_*219-19delinsCAA
ENST00000636997.1:c.296-21_296-19delinsCAA	ENSP00000490093.1:n.296-21_296-19delinsCAA
ENST00000637013.1:c.*595-21_*595-19delinsCAA	ENSP00000490596.1:n.*595-21_*595-19delinsCAA
ENST00000637095.1:c.*163-21_*163-19delinsCAA	ENSP00000490415.1:n.*163-21_*163-19delinsCAA
ENST00000637244.1:c.*901-21_*901-19delinsCAA	ENSP00000490188.1:n.*901-21_*901-19delinsCAA
ENST00000637343.1:n.573_575delinsCAA
ENST00000637429.1:c.*595-21_*595-19delinsCAA	ENSP00000490522.1:n.*595-21_*595-19delinsCAA
ENST00000637484.1:c.*420-1322_*420-1320delinsCAA	ENSP00000490837.1:n.*420-1322_*420-1320delinsCAA
ENST00000637528.1:c.383-84_383-82delinsCAA	ENSP00000490801.1:n.383-84_383-82delinsCAA
ENST00000637603.1:c.353-21_353-19delinsCAA	ENSP00000489979.1:n.353-21_353-19delinsCAA
ENST00000637609.1:n.3083_3085delinsCAA
ENST00000637636.1:c.377-21_377-19delinsCAA	ENSP00000490112.1:n.377-21_377-19delinsCAA
ENST00000637638.1:c.383-21_383-19delinsCAA	ENSP00000490774.1:n.383-21_383-19delinsCAA
ENST00000637718.1:c.188-21_188-19delinsCAA	ENSP00000490133.1:n.188-21_188-19delinsCAA
ENST00000637790.2:c.383-21_383-19delinsCAA MANE Select	ENSP00000490272.1:n.383-21_383-19delinsCAA
ENST00000637857.1:n.105-2129_105-2127delinsCAA
ENST00000637922.1:c.188-21_188-19delinsCAA	ENSP00000490071.1:n.188-21_188-19delinsCAA
ENST00000637991.1:c.431-1322_431-1320delinsCAA	ENSP00000489901.1:n.431-1322_431-1320delinsCAA
ENST00000638069.1:n.439-21_439-19delinsCAA
ENST00000262097.10:c.383-21_383-19delinsCAA	ENSP00000262097.6:n.383-21_383-19delinsCAA
ENST00000314146.10:c.365-21_365-19delinsCAA	ENSP00000326970.10:n.365-21_365-19delinsCAA
ENST00000381733.8:c.431-21_431-19delinsCAA	ENSP00000371152.4:n.431-21_431-19delinsCAA
ENST00000519468.5:n.389-2185_389-2183delinsCAA
ENST00000519545.5:n.397-21_397-19delinsCAA
ENST00000520781.5:c.383-1322_383-1320delinsCAA	ENSP00000427751.1:n.383-1322_383-1320delinsCAA
ENST00000523593.5:n.236-21_236-19delinsCAA
ENST00000523744.1:n.365_367delinsCAA
NM_001127505.1:c.365-21_365-19delinsCAA	NP_001120977.1:n.365-21_365-19delinsCAA
NM_001127505.2:c.365-21_365-19delinsCAA	NP_001120977.1:n.365-21_365-19delinsCAA
NM_004315.4:c.431-21_431-19delinsCAA	NP_004306.3:n.431-21_431-19delinsCAA
NM_004315.5:c.431-21_431-19delinsCAA	NP_004306.3:n.431-21_431-19delinsCAA
NM_177924.3:c.383-21_383-19delinsCAA	NP_808592.2:n.383-21_383-19delinsCAA
NM_177924.4:c.383-21_383-19delinsCAA	NP_808592.2:n.383-21_383-19delinsCAA
XM_005273504.2:c.317-21_317-19delinsCAA	XP_005273561.1:n.317-21_317-19delinsCAA
NM_001363743.1:c.188-21_188-19delinsCAA	NP_001350672.1:n.188-21_188-19delinsCAA
XM_005273504.3:c.317-21_317-19delinsCAA	XP_005273561.1:n.317-21_317-19delinsCAA
NM_177924.5:c.383-21_383-19delinsCAA MANE Select	NP_808592.2:n.383-21_383-19delinsCAA
NM_001127505.3:c.365-21_365-19delinsCAA	NP_001120977.1:n.365-21_365-19delinsCAA
NM_001363743.2:c.188-21_188-19delinsCAA	NP_001350672.1:n.188-21_188-19delinsCAA
NM_004315.6:c.431-21_431-19delinsCAA	NP_004306.3:n.431-21_431-19delinsCAA