Canonical Allele Identifier: CA1111403209

Gene: ASAH1

Linked Data

• dbSNP Id: rs1799698620
• gnomAD v3: 8-18061504-ATGTAACCAGTCAGGACCCGGAAGAGGCTGGACTATATAACCAGTCAGGAACCAGAAGAGGTTAGACTT-A
• gnomAD v4: 8-18061504-ATGTAACCAGTCAGGACCCGGAAGAGGCTGGACTATATAACCAGTCAGGAACCAGAAGAGGTTAGACTT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.18061516_18061583del , CM000670.2:g.18061516_18061583del	GRCh38
NC_000008.10:g.17919025_17919092del , CM000670.1:g.17919025_17919092del	GRCh37
NC_000008.9:g.17963305_17963372del	NCBI36
NG_008985.1:g.28427_28494del
NG_008985.2:g.28427_28494del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381733.9:c.752-114_752-47del	ENSP00000371152.4:n.752-114_752-47del
ENST00000517409.2:n.672-114_672-47del
ENST00000518746.2:n.2276_2343del
ENST00000519545.6:n.721-114_721-47del
ENST00000520781.6:c.629-114_629-47del	ENSP00000427751.1:n.629-114_629-47del
ENST00000521542.2:n.12-114_12-47del
ENST00000635756.1:c.125+114_126-56del
ENST00000635944.1:c.*540-114_*540-47del	ENSP00000490195.1:n.*540-114_*540-47del
ENST00000635998.1:c.704-114_704-47del	ENSP00000490506.1:n.704-114_704-47del
ENST00000636009.1:c.561-114_561-47del	ENSP00000489988.1:n.561-114_561-47del
ENST00000636033.1:c.*540-114_*540-47del	ENSP00000489617.1:n.*540-114_*540-47del
ENST00000636050.1:c.*547-114_*547-47del	ENSP00000490562.1:n.*547-114_*547-47del
ENST00000636128.1:c.383-114_383-47del	ENSP00000489789.1:n.383-114_383-47del
ENST00000636160.1:c.*596-114_*596-47del	ENSP00000489651.1:n.*596-114_*596-47del
ENST00000636171.1:c.647-114_647-47del	ENSP00000489761.1:n.647-114_647-47del
ENST00000636455.1:c.752-114_752-47del	ENSP00000490502.1:n.752-114_752-47del
ENST00000636494.1:c.*484-114_*484-47del	ENSP00000490388.1:n.*484-114_*484-47del
ENST00000636563.1:n.366-114_366-47del
ENST00000636577.1:c.644-114_644-47del	ENSP00000490027.1:n.644-114_644-47del
ENST00000636691.1:c.509-114_509-47del	ENSP00000490725.1:n.509-114_509-47del
ENST00000636701.1:c.*355-114_*355-47del	ENSP00000489800.1:n.*355-114_*355-47del
ENST00000636815.1:c.621-114_621-47del
ENST00000636920.1:c.*540-114_*540-47del	ENSP00000490437.1:n.*540-114_*540-47del
ENST00000636997.1:c.617-114_617-47del	ENSP00000490093.1:n.617-114_617-47del
ENST00000637013.1:c.*1072-114_*1072-47del	ENSP00000490596.1:n.*1072-114_*1072-47del
ENST00000637014.1:n.1111-114_1111-47del
ENST00000637095.1:c.*484-114_*484-47del	ENSP00000490415.1:n.*484-114_*484-47del
ENST00000637244.1:c.*1222-114_*1222-47del	ENSP00000490188.1:n.*1222-114_*1222-47del
ENST00000637343.1:n.2141-114_2141-47del
ENST00000637429.1:c.*916-114_*916-47del	ENSP00000490522.1:n.*916-114_*916-47del
ENST00000637484.1:c.*666-114_*666-47del	ENSP00000490837.1:n.*666-114_*666-47del
ENST00000637528.1:c.641-114_641-47del	ENSP00000490801.1:n.641-114_641-47del
ENST00000637609.1:n.3425-114_3425-47del
ENST00000637636.1:c.698-114_698-47del	ENSP00000490112.1:n.698-114_698-47del
ENST00000637790.2:c.704-114_704-47del MANE Select	ENSP00000490272.1:n.704-114_704-47del
ENST00000637857.1:n.956_1023del
ENST00000637922.1:c.509-114_509-47del	ENSP00000490071.1:n.509-114_509-47del
ENST00000637991.1:c.677-114_677-47del	ENSP00000489901.1:n.677-114_677-47del
ENST00000638028.1:n.921-114_921-47del
ENST00000638069.1:n.1411_1478del
ENST00000262097.10:c.704-114_704-47del	ENSP00000262097.6:n.704-114_704-47del
ENST00000314146.10:c.686-114_686-47del	ENSP00000326970.10:n.686-114_686-47del
ENST00000381733.8:c.752-114_752-47del	ENSP00000371152.4:n.752-114_752-47del
ENST00000518746.1:n.521-114_521-47del
ENST00000519468.5:n.533-114_533-47del
ENST00000520781.5:c.629-114_629-47del	ENSP00000427751.1:n.629-114_629-47del
ENST00000521542.1:n.303_370del
NM_001127505.1:c.686-114_686-47del	NP_001120977.1:n.686-114_686-47del
NM_001127505.2:c.686-114_686-47del	NP_001120977.1:n.686-114_686-47del
NM_004315.4:c.752-114_752-47del	NP_004306.3:n.752-114_752-47del
NM_004315.5:c.752-114_752-47del	NP_004306.3:n.752-114_752-47del
NM_177924.3:c.704-114_704-47del	NP_808592.2:n.704-114_704-47del
NM_177924.4:c.704-114_704-47del	NP_808592.2:n.704-114_704-47del
XM_005273504.2:c.638-114_638-47del	XP_005273561.1:n.638-114_638-47del
NM_001363743.1:c.509-114_509-47del	NP_001350672.1:n.509-114_509-47del
XM_005273504.3:c.638-114_638-47del	XP_005273561.1:n.638-114_638-47del
NM_177924.5:c.704-114_704-47del MANE Select	NP_808592.2:n.704-114_704-47del
NM_001127505.3:c.686-114_686-47del	NP_001120977.1:n.686-114_686-47del
NM_001363743.2:c.509-114_509-47del	NP_001350672.1:n.509-114_509-47del
NM_004315.6:c.752-114_752-47del	NP_004306.3:n.752-114_752-47del