Canonical Allele Identifier: CA2686315142

Gene: ASAH1

Linked Data

• gnomAD v4: 8-18061460-TGGAAGAGATGAACACAATGTCAGGAACCGGAAGAGGTGACACTATGTAACCAGTCAGGACCC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.18061468_18061529del , CM000670.2:g.18061468_18061529del	GRCh38
NC_000008.10:g.17918977_17919038del , CM000670.1:g.17918977_17919038del	GRCh37
NC_000008.9:g.17963257_17963318del	NCBI36
NG_008985.1:g.28477_28538del
NG_008985.2:g.28477_28538del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381733.9:c.752-64_752-3del	ENSP00000371152.4:n.752-64_752-3del
ENST00000517409.2:n.672-64_672-3del
ENST00000518746.2:n.2326_2387del
ENST00000519545.6:n.721-64_721-3del
ENST00000520781.6:c.629-64_629-3del	ENSP00000427751.1:n.629-64_629-3del
ENST00000521542.2:n.12-64_12-3del
ENST00000635756.1:c.126-73_126-12del
ENST00000635944.1:c.*540-64_*540-3del	ENSP00000490195.1:n.*540-64_*540-3del
ENST00000635998.1:c.704-64_704-3del	ENSP00000490506.1:n.704-64_704-3del
ENST00000636009.1:c.561-64_561-3del	ENSP00000489988.1:n.561-64_561-3del
ENST00000636033.1:c.*540-64_*540-3del	ENSP00000489617.1:n.*540-64_*540-3del
ENST00000636050.1:c.*547-64_*547-3del	ENSP00000490562.1:n.*547-64_*547-3del
ENST00000636128.1:c.383-64_383-3del	ENSP00000489789.1:n.383-64_383-3del
ENST00000636160.1:c.*596-64_*596-3del	ENSP00000489651.1:n.*596-64_*596-3del
ENST00000636171.1:c.647-64_647-3del	ENSP00000489761.1:n.647-64_647-3del
ENST00000636455.1:c.752-64_752-3del	ENSP00000490502.1:n.752-64_752-3del
ENST00000636494.1:c.*484-64_*484-3del	ENSP00000490388.1:n.*484-64_*484-3del
ENST00000636563.1:n.366-64_366-3del
ENST00000636577.1:c.644-64_644-3del	ENSP00000490027.1:n.644-64_644-3del
ENST00000636691.1:c.509-64_509-3del	ENSP00000490725.1:n.509-64_509-3del
ENST00000636701.1:c.*355-64_*355-3del	ENSP00000489800.1:n.*355-64_*355-3del
ENST00000636815.1:c.621-64_621-3del
ENST00000636920.1:c.*540-64_*540-3del	ENSP00000490437.1:n.*540-64_*540-3del
ENST00000636997.1:c.617-64_617-3del	ENSP00000490093.1:n.617-64_617-3del
ENST00000637013.1:c.*1072-64_*1072-3del	ENSP00000490596.1:n.*1072-64_*1072-3del
ENST00000637014.1:n.1111-64_1111-3del
ENST00000637095.1:c.*484-64_*484-3del	ENSP00000490415.1:n.*484-64_*484-3del
ENST00000637244.1:c.*1222-64_*1222-3del	ENSP00000490188.1:n.*1222-64_*1222-3del
ENST00000637343.1:n.2141-64_2141-3del
ENST00000637429.1:c.*916-64_*916-3del	ENSP00000490522.1:n.*916-64_*916-3del
ENST00000637484.1:c.*666-64_*666-3del	ENSP00000490837.1:n.*666-64_*666-3del
ENST00000637528.1:c.641-64_641-3del	ENSP00000490801.1:n.641-64_641-3del
ENST00000637609.1:n.3425-64_3425-3del
ENST00000637636.1:c.698-64_698-3del	ENSP00000490112.1:n.698-64_698-3del
ENST00000637790.2:c.704-64_704-3del MANE Select	ENSP00000490272.1:n.704-64_704-3del
ENST00000637857.1:n.1006_1067del
ENST00000637922.1:c.509-64_509-3del	ENSP00000490071.1:n.509-64_509-3del
ENST00000637991.1:c.677-64_677-3del	ENSP00000489901.1:n.677-64_677-3del
ENST00000638028.1:n.921-64_921-3del
ENST00000638069.1:n.1461_1522del
ENST00000262097.10:c.704-64_704-3del	ENSP00000262097.6:n.704-64_704-3del
ENST00000314146.10:c.686-64_686-3del	ENSP00000326970.10:n.686-64_686-3del
ENST00000381733.8:c.752-64_752-3del	ENSP00000371152.4:n.752-64_752-3del
ENST00000518746.1:n.521-64_521-3del
ENST00000519468.5:n.533-64_533-3del
ENST00000520781.5:c.629-64_629-3del	ENSP00000427751.1:n.629-64_629-3del
ENST00000521542.1:n.353_414del
NM_001127505.1:c.686-64_686-3del	NP_001120977.1:n.686-64_686-3del
NM_001127505.2:c.686-64_686-3del	NP_001120977.1:n.686-64_686-3del
NM_004315.4:c.752-64_752-3del	NP_004306.3:n.752-64_752-3del
NM_004315.5:c.752-64_752-3del	NP_004306.3:n.752-64_752-3del
NM_177924.3:c.704-64_704-3del	NP_808592.2:n.704-64_704-3del
NM_177924.4:c.704-64_704-3del	NP_808592.2:n.704-64_704-3del
XM_005273504.2:c.638-64_638-3del	XP_005273561.1:n.638-64_638-3del
NM_001363743.1:c.509-64_509-3del	NP_001350672.1:n.509-64_509-3del
XM_005273504.3:c.638-64_638-3del	XP_005273561.1:n.638-64_638-3del
NM_177924.5:c.704-64_704-3del MANE Select	NP_808592.2:n.704-64_704-3del
NM_001127505.3:c.686-64_686-3del	NP_001120977.1:n.686-64_686-3del
NM_001363743.2:c.509-64_509-3del	NP_001350672.1:n.509-64_509-3del
NM_004315.6:c.752-64_752-3del	NP_004306.3:n.752-64_752-3del