Canonical Allele Identifier: CA1768025775

Gene: ASAH1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.18064697_18064698delinsTC , CM000670.2:g.18064697_18064698delinsTC	GRCh38
NC_000008.10:g.17922206_17922207delinsTC , CM000670.1:g.17922206_17922207delinsTC	GRCh37
NC_000008.9:g.17966486_17966487delinsTC	NCBI36
NG_008985.1:g.25301_25302delinsGA
NG_008985.2:g.25301_25302delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381733.9:c.431-167_431-166delinsGA	ENSP00000371152.4:n.431-167_431-166delinsGA
ENST00000519545.6:n.400-167_400-166delinsGA
ENST00000520781.6:c.383-1468_383-1467delinsGA	ENSP00000427751.1:n.383-1468_383-1467delinsGA
ENST00000523593.6:c.*226-167_*226-166delinsGA	ENSP00000490700.1:n.*226-167_*226-166delinsGA
ENST00000523744.2:n.3974_3975delinsGA
ENST00000635769.1:c.404-167_404-166delinsGA	ENSP00000490485.1:n.404-167_404-166delinsGA
ENST00000635944.1:c.*219-167_*219-166delinsGA	ENSP00000490195.1:n.*219-167_*219-166delinsGA
ENST00000635998.1:c.383-167_383-166delinsGA	ENSP00000490506.1:n.383-167_383-166delinsGA
ENST00000636009.1:c.315-1468_315-1467delinsGA	ENSP00000489988.1:n.315-1468_315-1467delinsGA
ENST00000636033.1:c.*219-167_*219-166delinsGA	ENSP00000489617.1:n.*219-167_*219-166delinsGA
ENST00000636050.1:c.*226-167_*226-166delinsGA	ENSP00000490562.1:n.*226-167_*226-166delinsGA
ENST00000636128.1:c.382+2522_382+2523delinsGA	ENSP00000489789.1:n.382+2522_382+2523delinsGA
ENST00000636160.1:c.*275-167_*275-166delinsGA	ENSP00000489651.1:n.*275-167_*275-166delinsGA
ENST00000636171.1:c.383-224_383-223delinsGA	ENSP00000489761.1:n.383-224_383-223delinsGA
ENST00000636299.1:c.*154-167_*154-166delinsGA	ENSP00000490202.1:n.*154-167_*154-166delinsGA
ENST00000636435.1:n.2988_2989delinsGA
ENST00000636455.1:c.431-167_431-166delinsGA	ENSP00000490502.1:n.431-167_431-166delinsGA
ENST00000636494.1:c.*163-167_*163-166delinsGA	ENSP00000490388.1:n.*163-167_*163-166delinsGA
ENST00000636563.1:n.44+27_44+28delinsGA
ENST00000636577.1:c.383-227_383-226delinsGA	ENSP00000490027.1:n.383-227_383-226delinsGA
ENST00000636691.1:c.188-167_188-166delinsGA	ENSP00000490725.1:n.188-167_188-166delinsGA
ENST00000636701.1:c.*34-167_*34-166delinsGA	ENSP00000489800.1:n.*34-167_*34-166delinsGA
ENST00000636815.1:c.300-167_300-166delinsGA
ENST00000636823.1:c.188-167_188-166delinsGA	ENSP00000490798.1:n.188-167_188-166delinsGA
ENST00000636828.1:n.3080_3081delinsGA
ENST00000636920.1:c.*219-167_*219-166delinsGA	ENSP00000490437.1:n.*219-167_*219-166delinsGA
ENST00000636997.1:c.296-167_296-166delinsGA	ENSP00000490093.1:n.296-167_296-166delinsGA
ENST00000637013.1:c.*595-167_*595-166delinsGA	ENSP00000490596.1:n.*595-167_*595-166delinsGA
ENST00000637095.1:c.*163-167_*163-166delinsGA	ENSP00000490415.1:n.*163-167_*163-166delinsGA
ENST00000637244.1:c.*901-167_*901-166delinsGA	ENSP00000490188.1:n.*901-167_*901-166delinsGA
ENST00000637343.1:n.427_428delinsGA
ENST00000637429.1:c.*595-167_*595-166delinsGA	ENSP00000490522.1:n.*595-167_*595-166delinsGA
ENST00000637484.1:c.*420-1468_*420-1467delinsGA	ENSP00000490837.1:n.*420-1468_*420-1467delinsGA
ENST00000637528.1:c.383-230_383-229delinsGA	ENSP00000490801.1:n.383-230_383-229delinsGA
ENST00000637603.1:c.353-167_353-166delinsGA	ENSP00000489979.1:n.353-167_353-166delinsGA
ENST00000637609.1:n.2937_2938delinsGA
ENST00000637636.1:c.377-167_377-166delinsGA	ENSP00000490112.1:n.377-167_377-166delinsGA
ENST00000637638.1:c.383-167_383-166delinsGA	ENSP00000490774.1:n.383-167_383-166delinsGA
ENST00000637718.1:c.188-167_188-166delinsGA	ENSP00000490133.1:n.188-167_188-166delinsGA
ENST00000637790.2:c.383-167_383-166delinsGA MANE Select	ENSP00000490272.1:n.383-167_383-166delinsGA
ENST00000637857.1:n.105-2275_105-2274delinsGA
ENST00000637922.1:c.188-167_188-166delinsGA	ENSP00000490071.1:n.188-167_188-166delinsGA
ENST00000637991.1:c.431-1468_431-1467delinsGA	ENSP00000489901.1:n.431-1468_431-1467delinsGA
ENST00000638069.1:n.439-167_439-166delinsGA
ENST00000262097.10:c.383-167_383-166delinsGA	ENSP00000262097.6:n.383-167_383-166delinsGA
ENST00000314146.10:c.365-167_365-166delinsGA	ENSP00000326970.10:n.365-167_365-166delinsGA
ENST00000381733.8:c.431-167_431-166delinsGA	ENSP00000371152.4:n.431-167_431-166delinsGA
ENST00000519468.5:n.389-2331_389-2330delinsGA
ENST00000519545.5:n.397-167_397-166delinsGA
ENST00000520781.5:c.383-1468_383-1467delinsGA	ENSP00000427751.1:n.383-1468_383-1467delinsGA
ENST00000523593.5:n.236-167_236-166delinsGA
ENST00000523744.1:n.219_220delinsGA
NM_001127505.1:c.365-167_365-166delinsGA	NP_001120977.1:n.365-167_365-166delinsGA
NM_001127505.2:c.365-167_365-166delinsGA	NP_001120977.1:n.365-167_365-166delinsGA
NM_004315.4:c.431-167_431-166delinsGA	NP_004306.3:n.431-167_431-166delinsGA
NM_004315.5:c.431-167_431-166delinsGA	NP_004306.3:n.431-167_431-166delinsGA
NM_177924.3:c.383-167_383-166delinsGA	NP_808592.2:n.383-167_383-166delinsGA
NM_177924.4:c.383-167_383-166delinsGA	NP_808592.2:n.383-167_383-166delinsGA
XM_005273504.2:c.317-167_317-166delinsGA	XP_005273561.1:n.317-167_317-166delinsGA
NM_001363743.1:c.188-167_188-166delinsGA	NP_001350672.1:n.188-167_188-166delinsGA
XM_005273504.3:c.317-167_317-166delinsGA	XP_005273561.1:n.317-167_317-166delinsGA
NM_177924.5:c.383-167_383-166delinsGA MANE Select	NP_808592.2:n.383-167_383-166delinsGA
NM_001127505.3:c.365-167_365-166delinsGA	NP_001120977.1:n.365-167_365-166delinsGA
NM_001363743.2:c.188-167_188-166delinsGA	NP_001350672.1:n.188-167_188-166delinsGA
NM_004315.6:c.431-167_431-166delinsGA	NP_004306.3:n.431-167_431-166delinsGA