Canonical Allele Identifier: CA1768025580

Gene: ASAH1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.18064603_18064611delinsAGTTTCAGT , CM000670.2:g.18064603_18064611delinsAGTTTCAGT	GRCh38
NC_000008.10:g.17922112_17922120delinsAGTTTCAGT , CM000670.1:g.17922112_17922120delinsAGTTTCAGT	GRCh37
NC_000008.9:g.17966392_17966400delinsAGTTTCAGT	NCBI36
NG_008985.1:g.25388_25396delinsACTGAAACT
NG_008985.2:g.25388_25396delinsACTGAAACT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381733.9:c.431-80_431-72delinsACTGAAACT	ENSP00000371152.4:n.431-80_431-72delinsACTGAAACT
ENST00000519545.6:n.400-80_400-72delinsACTGAAACT
ENST00000520781.6:c.383-1381_383-1373delinsACTGAAACT	ENSP00000427751.1:n.383-1381_383-1373delinsACTGAAACT
ENST00000523593.6:c.*226-80_*226-72delinsACTGAAACT	ENSP00000490700.1:n.*226-80_*226-72delinsACTGAAACT
ENST00000523744.2:n.4061_4069delinsACTGAAACT
ENST00000635769.1:c.404-80_404-72delinsACTGAAACT	ENSP00000490485.1:n.404-80_404-72delinsACTGAAACT
ENST00000635944.1:c.*219-80_*219-72delinsACTGAAACT	ENSP00000490195.1:n.*219-80_*219-72delinsACTGAAACT
ENST00000635998.1:c.383-80_383-72delinsACTGAAACT	ENSP00000490506.1:n.383-80_383-72delinsACTGAAACT
ENST00000636009.1:c.315-1381_315-1373delinsACTGAAACT	ENSP00000489988.1:n.315-1381_315-1373delinsACTGAAACT
ENST00000636033.1:c.*219-80_*219-72delinsACTGAAACT	ENSP00000489617.1:n.*219-80_*219-72delinsACTGAAACT
ENST00000636050.1:c.*226-80_*226-72delinsACTGAAACT	ENSP00000490562.1:n.*226-80_*226-72delinsACTGAAACT
ENST00000636128.1:c.382+2609_382+2617delinsACTGAAACT	ENSP00000489789.1:n.382+2609_382+2617delinsACTGAAACT
ENST00000636160.1:c.*275-80_*275-72delinsACTGAAACT	ENSP00000489651.1:n.*275-80_*275-72delinsACTGAAACT
ENST00000636171.1:c.383-137_383-129delinsACTGAAACT	ENSP00000489761.1:n.383-137_383-129delinsACTGAAACT
ENST00000636299.1:c.*154-80_*154-72delinsACTGAAACT	ENSP00000490202.1:n.*154-80_*154-72delinsACTGAAACT
ENST00000636435.1:n.3075_3083delinsACTGAAACT
ENST00000636455.1:c.431-80_431-72delinsACTGAAACT	ENSP00000490502.1:n.431-80_431-72delinsACTGAAACT
ENST00000636494.1:c.*163-80_*163-72delinsACTGAAACT	ENSP00000490388.1:n.*163-80_*163-72delinsACTGAAACT
ENST00000636563.1:n.45-80_45-72delinsACTGAAACT
ENST00000636577.1:c.383-140_383-132delinsACTGAAACT	ENSP00000490027.1:n.383-140_383-132delinsACTGAAACT
ENST00000636691.1:c.188-80_188-72delinsACTGAAACT	ENSP00000490725.1:n.188-80_188-72delinsACTGAAACT
ENST00000636701.1:c.*34-80_*34-72delinsACTGAAACT	ENSP00000489800.1:n.*34-80_*34-72delinsACTGAAACT
ENST00000636815.1:c.300-80_300-72delinsACTGAAACT
ENST00000636823.1:c.188-80_188-72delinsACTGAAACT	ENSP00000490798.1:n.188-80_188-72delinsACTGAAACT
ENST00000636828.1:n.3167_3175delinsACTGAAACT
ENST00000636920.1:c.*219-80_*219-72delinsACTGAAACT	ENSP00000490437.1:n.*219-80_*219-72delinsACTGAAACT
ENST00000636997.1:c.296-80_296-72delinsACTGAAACT	ENSP00000490093.1:n.296-80_296-72delinsACTGAAACT
ENST00000637013.1:c.*595-80_*595-72delinsACTGAAACT	ENSP00000490596.1:n.*595-80_*595-72delinsACTGAAACT
ENST00000637095.1:c.*163-80_*163-72delinsACTGAAACT	ENSP00000490415.1:n.*163-80_*163-72delinsACTGAAACT
ENST00000637244.1:c.*901-80_*901-72delinsACTGAAACT	ENSP00000490188.1:n.*901-80_*901-72delinsACTGAAACT
ENST00000637343.1:n.514_522delinsACTGAAACT
ENST00000637429.1:c.*595-80_*595-72delinsACTGAAACT	ENSP00000490522.1:n.*595-80_*595-72delinsACTGAAACT
ENST00000637484.1:c.*420-1381_*420-1373delinsACTGAAACT	ENSP00000490837.1:n.*420-1381_*420-1373delinsACTGAAACT
ENST00000637528.1:c.383-143_383-135delinsACTGAAACT	ENSP00000490801.1:n.383-143_383-135delinsACTGAAACT
ENST00000637603.1:c.353-80_353-72delinsACTGAAACT	ENSP00000489979.1:n.353-80_353-72delinsACTGAAACT
ENST00000637609.1:n.3024_3032delinsACTGAAACT
ENST00000637636.1:c.377-80_377-72delinsACTGAAACT	ENSP00000490112.1:n.377-80_377-72delinsACTGAAACT
ENST00000637638.1:c.383-80_383-72delinsACTGAAACT	ENSP00000490774.1:n.383-80_383-72delinsACTGAAACT
ENST00000637718.1:c.188-80_188-72delinsACTGAAACT	ENSP00000490133.1:n.188-80_188-72delinsACTGAAACT
ENST00000637790.2:c.383-80_383-72delinsACTGAAACT MANE Select	ENSP00000490272.1:n.383-80_383-72delinsACTGAAACT
ENST00000637857.1:n.105-2188_105-2180delinsACTGAAACT
ENST00000637922.1:c.188-80_188-72delinsACTGAAACT	ENSP00000490071.1:n.188-80_188-72delinsACTGAAACT
ENST00000637991.1:c.431-1381_431-1373delinsACTGAAACT	ENSP00000489901.1:n.431-1381_431-1373delinsACTGAAACT
ENST00000638069.1:n.439-80_439-72delinsACTGAAACT
ENST00000262097.10:c.383-80_383-72delinsACTGAAACT	ENSP00000262097.6:n.383-80_383-72delinsACTGAAACT
ENST00000314146.10:c.365-80_365-72delinsACTGAAACT	ENSP00000326970.10:n.365-80_365-72delinsACTGAAACT
ENST00000381733.8:c.431-80_431-72delinsACTGAAACT	ENSP00000371152.4:n.431-80_431-72delinsACTGAAACT
ENST00000519468.5:n.389-2244_389-2236delinsACTGAAACT
ENST00000519545.5:n.397-80_397-72delinsACTGAAACT
ENST00000520781.5:c.383-1381_383-1373delinsACTGAAACT	ENSP00000427751.1:n.383-1381_383-1373delinsACTGAAACT
ENST00000523593.5:n.236-80_236-72delinsACTGAAACT
ENST00000523744.1:n.306_314delinsACTGAAACT
NM_001127505.1:c.365-80_365-72delinsACTGAAACT	NP_001120977.1:n.365-80_365-72delinsACTGAAACT
NM_001127505.2:c.365-80_365-72delinsACTGAAACT	NP_001120977.1:n.365-80_365-72delinsACTGAAACT
NM_004315.4:c.431-80_431-72delinsACTGAAACT	NP_004306.3:n.431-80_431-72delinsACTGAAACT
NM_004315.5:c.431-80_431-72delinsACTGAAACT	NP_004306.3:n.431-80_431-72delinsACTGAAACT
NM_177924.3:c.383-80_383-72delinsACTGAAACT	NP_808592.2:n.383-80_383-72delinsACTGAAACT
NM_177924.4:c.383-80_383-72delinsACTGAAACT	NP_808592.2:n.383-80_383-72delinsACTGAAACT
XM_005273504.2:c.317-80_317-72delinsACTGAAACT	XP_005273561.1:n.317-80_317-72delinsACTGAAACT
NM_001363743.1:c.188-80_188-72delinsACTGAAACT	NP_001350672.1:n.188-80_188-72delinsACTGAAACT
XM_005273504.3:c.317-80_317-72delinsACTGAAACT	XP_005273561.1:n.317-80_317-72delinsACTGAAACT
NM_177924.5:c.383-80_383-72delinsACTGAAACT MANE Select	NP_808592.2:n.383-80_383-72delinsACTGAAACT
NM_001127505.3:c.365-80_365-72delinsACTGAAACT	NP_001120977.1:n.365-80_365-72delinsACTGAAACT
NM_001363743.2:c.188-80_188-72delinsACTGAAACT	NP_001350672.1:n.188-80_188-72delinsACTGAAACT
NM_004315.6:c.431-80_431-72delinsACTGAAACT	NP_004306.3:n.431-80_431-72delinsACTGAAACT