Canonical Allele Identifier: CA2686315143

Gene: ASAH1

Linked Data

• gnomAD v4: 8-18064653-G-GCACAGCCCCA

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.18064654_18064655insACAGCCCCAC , CM000670.2:g.18064654_18064655insACAGCCCCAC	GRCh38
NC_000008.10:g.17922163_17922164insACAGCCCCAC , CM000670.1:g.17922163_17922164insACAGCCCCAC	GRCh37
NC_000008.9:g.17966443_17966444insACAGCCCCAC	NCBI36
NG_008985.1:g.25345_25346insTGGGGCTGTG
NG_008985.2:g.25345_25346insTGGGGCTGTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381733.9:c.431-123_431-122insTGGGGCTGTG	ENSP00000371152.4:n.431-123_431-122insTGGGGCTGTG
ENST00000519545.6:n.400-123_400-122insTGGGGCTGTG
ENST00000520781.6:c.383-1424_383-1423insTGGGGCTGTG	ENSP00000427751.1:n.383-1424_383-1423insTGGGGCTGTG
ENST00000523593.6:c.*226-123_*226-122insTGGGGCTGTG	ENSP00000490700.1:n.*226-123_*226-122insTGGGGCTGTG
ENST00000523744.2:n.4018_4019insTGGGGCTGTG
ENST00000635769.1:c.404-123_404-122insTGGGGCTGTG	ENSP00000490485.1:n.404-123_404-122insTGGGGCTGTG
ENST00000635944.1:c.*219-123_*219-122insTGGGGCTGTG	ENSP00000490195.1:n.*219-123_*219-122insTGGGGCTGTG
ENST00000635998.1:c.383-123_383-122insTGGGGCTGTG	ENSP00000490506.1:n.383-123_383-122insTGGGGCTGTG
ENST00000636009.1:c.315-1424_315-1423insTGGGGCTGTG	ENSP00000489988.1:n.315-1424_315-1423insTGGGGCTGTG
ENST00000636033.1:c.*219-123_*219-122insTGGGGCTGTG	ENSP00000489617.1:n.*219-123_*219-122insTGGGGCTGTG
ENST00000636050.1:c.*226-123_*226-122insTGGGGCTGTG	ENSP00000490562.1:n.*226-123_*226-122insTGGGGCTGTG
ENST00000636128.1:c.382+2566_382+2567insTGGGGCTGTG	ENSP00000489789.1:n.382+2566_382+2567insTGGGGCTGTG
ENST00000636160.1:c.*275-123_*275-122insTGGGGCTGTG	ENSP00000489651.1:n.*275-123_*275-122insTGGGGCTGTG
ENST00000636171.1:c.383-180_383-179insTGGGGCTGTG	ENSP00000489761.1:n.383-180_383-179insTGGGGCTGTG
ENST00000636299.1:c.*154-123_*154-122insTGGGGCTGTG	ENSP00000490202.1:n.*154-123_*154-122insTGGGGCTGTG
ENST00000636435.1:n.3032_3033insTGGGGCTGTG
ENST00000636455.1:c.431-123_431-122insTGGGGCTGTG	ENSP00000490502.1:n.431-123_431-122insTGGGGCTGTG
ENST00000636494.1:c.*163-123_*163-122insTGGGGCTGTG	ENSP00000490388.1:n.*163-123_*163-122insTGGGGCTGTG
ENST00000636563.1:n.44+71_44+72insTGGGGCTGTG
ENST00000636577.1:c.383-183_383-182insTGGGGCTGTG	ENSP00000490027.1:n.383-183_383-182insTGGGGCTGTG
ENST00000636691.1:c.188-123_188-122insTGGGGCTGTG	ENSP00000490725.1:n.188-123_188-122insTGGGGCTGTG
ENST00000636701.1:c.*34-123_*34-122insTGGGGCTGTG	ENSP00000489800.1:n.*34-123_*34-122insTGGGGCTGTG
ENST00000636815.1:c.300-123_300-122insTGGGGCTGTG
ENST00000636823.1:c.188-123_188-122insTGGGGCTGTG	ENSP00000490798.1:n.188-123_188-122insTGGGGCTGTG
ENST00000636828.1:n.3124_3125insTGGGGCTGTG
ENST00000636920.1:c.*219-123_*219-122insTGGGGCTGTG	ENSP00000490437.1:n.*219-123_*219-122insTGGGGCTGTG
ENST00000636997.1:c.296-123_296-122insTGGGGCTGTG	ENSP00000490093.1:n.296-123_296-122insTGGGGCTGTG
ENST00000637013.1:c.*595-123_*595-122insTGGGGCTGTG	ENSP00000490596.1:n.*595-123_*595-122insTGGGGCTGTG
ENST00000637095.1:c.*163-123_*163-122insTGGGGCTGTG	ENSP00000490415.1:n.*163-123_*163-122insTGGGGCTGTG
ENST00000637244.1:c.*901-123_*901-122insTGGGGCTGTG	ENSP00000490188.1:n.*901-123_*901-122insTGGGGCTGTG
ENST00000637343.1:n.471_472insTGGGGCTGTG
ENST00000637429.1:c.*595-123_*595-122insTGGGGCTGTG	ENSP00000490522.1:n.*595-123_*595-122insTGGGGCTGTG
ENST00000637484.1:c.*420-1424_*420-1423insTGGGGCTGTG	ENSP00000490837.1:n.*420-1424_*420-1423insTGGGGCTGTG
ENST00000637528.1:c.383-186_383-185insTGGGGCTGTG	ENSP00000490801.1:n.383-186_383-185insTGGGGCTGTG
ENST00000637603.1:c.353-123_353-122insTGGGGCTGTG	ENSP00000489979.1:n.353-123_353-122insTGGGGCTGTG
ENST00000637609.1:n.2981_2982insTGGGGCTGTG
ENST00000637636.1:c.377-123_377-122insTGGGGCTGTG	ENSP00000490112.1:n.377-123_377-122insTGGGGCTGTG
ENST00000637638.1:c.383-123_383-122insTGGGGCTGTG	ENSP00000490774.1:n.383-123_383-122insTGGGGCTGTG
ENST00000637718.1:c.188-123_188-122insTGGGGCTGTG	ENSP00000490133.1:n.188-123_188-122insTGGGGCTGTG
ENST00000637790.2:c.383-123_383-122insTGGGGCTGTG MANE Select	ENSP00000490272.1:n.383-123_383-122insTGGGGCTGTG
ENST00000637857.1:n.105-2231_105-2230insTGGGGCTGTG
ENST00000637922.1:c.188-123_188-122insTGGGGCTGTG	ENSP00000490071.1:n.188-123_188-122insTGGGGCTGTG
ENST00000637991.1:c.431-1424_431-1423insTGGGGCTGTG	ENSP00000489901.1:n.431-1424_431-1423insTGGGGCTGTG
ENST00000638069.1:n.439-123_439-122insTGGGGCTGTG
ENST00000262097.10:c.383-123_383-122insTGGGGCTGTG	ENSP00000262097.6:n.383-123_383-122insTGGGGCTGTG
ENST00000314146.10:c.365-123_365-122insTGGGGCTGTG	ENSP00000326970.10:n.365-123_365-122insTGGGGCTGTG
ENST00000381733.8:c.431-123_431-122insTGGGGCTGTG	ENSP00000371152.4:n.431-123_431-122insTGGGGCTGTG
ENST00000519468.5:n.389-2287_389-2286insTGGGGCTGTG
ENST00000519545.5:n.397-123_397-122insTGGGGCTGTG
ENST00000520781.5:c.383-1424_383-1423insTGGGGCTGTG	ENSP00000427751.1:n.383-1424_383-1423insTGGGGCTGTG
ENST00000523593.5:n.236-123_236-122insTGGGGCTGTG
ENST00000523744.1:n.263_264insTGGGGCTGTG
NM_001127505.1:c.365-123_365-122insTGGGGCTGTG	NP_001120977.1:n.365-123_365-122insTGGGGCTGTG
NM_001127505.2:c.365-123_365-122insTGGGGCTGTG	NP_001120977.1:n.365-123_365-122insTGGGGCTGTG
NM_004315.4:c.431-123_431-122insTGGGGCTGTG	NP_004306.3:n.431-123_431-122insTGGGGCTGTG
NM_004315.5:c.431-123_431-122insTGGGGCTGTG	NP_004306.3:n.431-123_431-122insTGGGGCTGTG
NM_177924.3:c.383-123_383-122insTGGGGCTGTG	NP_808592.2:n.383-123_383-122insTGGGGCTGTG
NM_177924.4:c.383-123_383-122insTGGGGCTGTG	NP_808592.2:n.383-123_383-122insTGGGGCTGTG
XM_005273504.2:c.317-123_317-122insTGGGGCTGTG	XP_005273561.1:n.317-123_317-122insTGGGGCTGTG
NM_001363743.1:c.188-123_188-122insTGGGGCTGTG	NP_001350672.1:n.188-123_188-122insTGGGGCTGTG
XM_005273504.3:c.317-123_317-122insTGGGGCTGTG	XP_005273561.1:n.317-123_317-122insTGGGGCTGTG
NM_177924.5:c.383-123_383-122insTGGGGCTGTG MANE Select	NP_808592.2:n.383-123_383-122insTGGGGCTGTG
NM_001127505.3:c.365-123_365-122insTGGGGCTGTG	NP_001120977.1:n.365-123_365-122insTGGGGCTGTG
NM_001363743.2:c.188-123_188-122insTGGGGCTGTG	NP_001350672.1:n.188-123_188-122insTGGGGCTGTG
NM_004315.6:c.431-123_431-122insTGGGGCTGTG	NP_004306.3:n.431-123_431-122insTGGGGCTGTG