Canonical Allele Identifier: CA173141313

Gene: ASAH1

Linked Data

• dbSNP Id: rs770181000
• gnomAD v3: 8-18061171-CTTT-C
• gnomAD v4: 8-18061171-CTTT-C
• MyVariant Identifiers: chr8:g.17918681_17918683del (hg19) ; chr8:g.18061172_18061174del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.18061174_18061176del , CM000670.2:g.18061174_18061176del	GRCh38
NC_000008.10:g.17918683_17918685del , CM000670.1:g.17918683_17918685del	GRCh37
NC_000008.9:g.17962963_17962965del	NCBI36
NG_008985.1:g.28825_28827del
NG_008985.2:g.28825_28827del

Transcript Alleles

HGVS	Amino-acid change
ENST00000381733.9:c.833+203_833+205del	ENSP00000371152.4:n.833+203_833+205del
ENST00000518746.2:n.2471+203_2471+205del
ENST00000520781.6:c.710+203_710+205del	ENSP00000427751.1:n.710+203_710+205del
ENST00000521542.2:n.296_298del
ENST00000635756.1:c.198+203_198+205del
ENST00000635944.1:c.*621+203_*621+205del	ENSP00000490195.1:n.*621+203_*621+205del
ENST00000635998.1:c.785+203_785+205del	ENSP00000490506.1:n.785+203_785+205del
ENST00000636009.1:c.642+203_642+205del	ENSP00000489988.1:n.642+203_642+205del
ENST00000636033.1:c.*621+203_*621+205del	ENSP00000489617.1:n.*621+203_*621+205del
ENST00000636050.1:c.*628+203_*628+205del	ENSP00000490562.1:n.*628+203_*628+205del
ENST00000636128.1:c.464+203_464+205del	ENSP00000489789.1:n.464+203_464+205del
ENST00000636160.1:c.*677+203_*677+205del	ENSP00000489651.1:n.*677+203_*677+205del
ENST00000636171.1:c.728+203_728+205del	ENSP00000489761.1:n.728+203_728+205del
ENST00000636455.1:c.833+203_833+205del	ENSP00000490502.1:n.833+203_833+205del
ENST00000636494.1:c.*565+203_*565+205del	ENSP00000490388.1:n.*565+203_*565+205del
ENST00000636563.1:n.447+203_447+205del
ENST00000636577.1:c.725+203_725+205del	ENSP00000490027.1:n.725+203_725+205del
ENST00000636691.1:c.590+203_590+205del	ENSP00000490725.1:n.590+203_590+205del
ENST00000636701.1:c.*436+203_*436+205del	ENSP00000489800.1:n.*436+203_*436+205del
ENST00000636815.1:c.702+203_702+205del
ENST00000636920.1:c.*621+203_*621+205del	ENSP00000490437.1:n.*621+203_*621+205del
ENST00000636997.1:c.698+203_698+205del	ENSP00000490093.1:n.698+203_698+205del
ENST00000637013.1:c.*1153+203_*1153+205del	ENSP00000490596.1:n.*1153+203_*1153+205del
ENST00000637014.1:n.1192+203_1192+205del
ENST00000637095.1:c.*565+203_*565+205del	ENSP00000490415.1:n.*565+203_*565+205del
ENST00000637244.1:c.*1303+203_*1303+205del	ENSP00000490188.1:n.*1303+203_*1303+205del
ENST00000637343.1:n.2222+203_2222+205del
ENST00000637429.1:c.*997+203_*997+205del	ENSP00000490522.1:n.*997+203_*997+205del
ENST00000637484.1:c.*747+203_*747+205del	ENSP00000490837.1:n.*747+203_*747+205del
ENST00000637528.1:c.722+203_722+205del	ENSP00000490801.1:n.722+203_722+205del
ENST00000637609.1:n.3506+203_3506+205del
ENST00000637636.1:c.779+203_779+205del	ENSP00000490112.1:n.779+203_779+205del
ENST00000637790.2:c.785+203_785+205del MANE Select	ENSP00000490272.1:n.785+203_785+205del
ENST00000637857.1:n.1151+203_1151+205del
ENST00000637922.1:c.590+203_590+205del	ENSP00000490071.1:n.590+203_590+205del
ENST00000637991.1:c.758+203_758+205del	ENSP00000489901.1:n.758+203_758+205del
ENST00000638028.1:n.1002+203_1002+205del
ENST00000638069.1:n.1606+203_1606+205del
ENST00000262097.10:c.785+203_785+205del	ENSP00000262097.6:n.785+203_785+205del
ENST00000314146.10:c.767+203_767+205del	ENSP00000326970.10:n.767+203_767+205del
ENST00000381733.8:c.833+203_833+205del	ENSP00000371152.4:n.833+203_833+205del
ENST00000519468.5:n.614+203_614+205del
ENST00000520781.5:c.710+203_710+205del	ENSP00000427751.1:n.710+203_710+205del
ENST00000521542.1:n.498+203_498+205del
NM_001127505.1:c.767+203_767+205del	NP_001120977.1:n.767+203_767+205del
NM_001127505.2:c.767+203_767+205del	NP_001120977.1:n.767+203_767+205del
NM_004315.4:c.833+203_833+205del	NP_004306.3:n.833+203_833+205del
NM_004315.5:c.833+203_833+205del	NP_004306.3:n.833+203_833+205del
NM_177924.3:c.785+203_785+205del	NP_808592.2:n.785+203_785+205del
NM_177924.4:c.785+203_785+205del	NP_808592.2:n.785+203_785+205del
XM_005273504.2:c.719+203_719+205del	XP_005273561.1:n.719+203_719+205del
NM_001363743.1:c.590+203_590+205del	NP_001350672.1:n.590+203_590+205del
XM_005273504.3:c.719+203_719+205del	XP_005273561.1:n.719+203_719+205del
NM_177924.5:c.785+203_785+205del MANE Select	NP_808592.2:n.785+203_785+205del
NM_001127505.3:c.767+203_767+205del	NP_001120977.1:n.767+203_767+205del
NM_001363743.2:c.590+203_590+205del	NP_001350672.1:n.590+203_590+205del
NM_004315.6:c.833+203_833+205del	NP_004306.3:n.833+203_833+205del