Canonical Allele Identifier: CA2686315059

Gene: ASAH1

Linked Data

• gnomAD v4: 8-18061365-GA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.18061368del , CM000670.2:g.18061368del	GRCh38
NC_000008.10:g.17918877del , CM000670.1:g.17918877del	GRCh37
NC_000008.9:g.17963157del	NCBI36
NG_008985.1:g.28633del
NG_008985.2:g.28633del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381733.9:c.833+11del	ENSP00000371152.4:n.833+11del
ENST00000518746.2:n.2471+11del
ENST00000520781.6:c.710+11del	ENSP00000427751.1:n.710+11del
ENST00000521542.2:n.104del
ENST00000635756.1:c.198+11del
ENST00000635944.1:c.*621+11del	ENSP00000490195.1:n.*621+11del
ENST00000635998.1:c.785+11del	ENSP00000490506.1:n.785+11del
ENST00000636009.1:c.642+11del	ENSP00000489988.1:n.642+11del
ENST00000636033.1:c.*621+11del	ENSP00000489617.1:n.*621+11del
ENST00000636050.1:c.*628+11del	ENSP00000490562.1:n.*628+11del
ENST00000636128.1:c.464+11del	ENSP00000489789.1:n.464+11del
ENST00000636160.1:c.*677+11del	ENSP00000489651.1:n.*677+11del
ENST00000636171.1:c.728+11del	ENSP00000489761.1:n.728+11del
ENST00000636455.1:c.833+11del	ENSP00000490502.1:n.833+11del
ENST00000636494.1:c.*565+11del	ENSP00000490388.1:n.*565+11del
ENST00000636563.1:n.447+11del
ENST00000636577.1:c.725+11del	ENSP00000490027.1:n.725+11del
ENST00000636691.1:c.590+11del	ENSP00000490725.1:n.590+11del
ENST00000636701.1:c.*436+11del	ENSP00000489800.1:n.*436+11del
ENST00000636815.1:c.702+11del
ENST00000636920.1:c.*621+11del	ENSP00000490437.1:n.*621+11del
ENST00000636997.1:c.698+11del	ENSP00000490093.1:n.698+11del
ENST00000637013.1:c.*1153+11del	ENSP00000490596.1:n.*1153+11del
ENST00000637014.1:n.1192+11del
ENST00000637095.1:c.*565+11del	ENSP00000490415.1:n.*565+11del
ENST00000637244.1:c.*1303+11del	ENSP00000490188.1:n.*1303+11del
ENST00000637343.1:n.2222+11del
ENST00000637429.1:c.*997+11del	ENSP00000490522.1:n.*997+11del
ENST00000637484.1:c.*747+11del	ENSP00000490837.1:n.*747+11del
ENST00000637528.1:c.722+11del	ENSP00000490801.1:n.722+11del
ENST00000637609.1:n.3506+11del
ENST00000637636.1:c.779+11del	ENSP00000490112.1:n.779+11del
ENST00000637790.2:c.785+11del MANE Select	ENSP00000490272.1:n.785+11del
ENST00000637857.1:n.1151+11del
ENST00000637922.1:c.590+11del	ENSP00000490071.1:n.590+11del
ENST00000637991.1:c.758+11del	ENSP00000489901.1:n.758+11del
ENST00000638028.1:n.1002+11del
ENST00000638069.1:n.1606+11del
ENST00000262097.10:c.785+11del	ENSP00000262097.6:n.785+11del
ENST00000314146.10:c.767+11del	ENSP00000326970.10:n.767+11del
ENST00000381733.8:c.833+11del	ENSP00000371152.4:n.833+11del
ENST00000519468.5:n.614+11del
ENST00000520781.5:c.710+11del	ENSP00000427751.1:n.710+11del
ENST00000521542.1:n.498+11del
NM_001127505.1:c.767+11del	NP_001120977.1:n.767+11del
NM_001127505.2:c.767+11del	NP_001120977.1:n.767+11del
NM_004315.4:c.833+11del	NP_004306.3:n.833+11del
NM_004315.5:c.833+11del	NP_004306.3:n.833+11del
NM_177924.3:c.785+11del	NP_808592.2:n.785+11del
NM_177924.4:c.785+11del	NP_808592.2:n.785+11del
XM_005273504.2:c.719+11del	XP_005273561.1:n.719+11del
NM_001363743.1:c.590+11del	NP_001350672.1:n.590+11del
XM_005273504.3:c.719+11del	XP_005273561.1:n.719+11del
NM_177924.5:c.785+11del MANE Select	NP_808592.2:n.785+11del
NM_001127505.3:c.767+11del	NP_001120977.1:n.767+11del
NM_001363743.2:c.590+11del	NP_001350672.1:n.590+11del
NM_004315.6:c.833+11del	NP_004306.3:n.833+11del