Canonical Allele Identifier: CA2580101644

Gene: IDS

Linked Data

• ClinVar Variation Id: 1724854
• ClinVar RCV Id: RCV002307913

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149503358_149503361del , CM000685.2:g.149503358_149503361del	GRCh38
NC_000023.10:g.148584888_148584891del , CM000685.1:g.148584888_148584891del	GRCh37
NC_000023.9:g.148392793_148392796del	NCBI36
NG_011900.3:g.6974_6977del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.369_372del MANE Select	ENSP00000339801.6:p.Phe123LeufsTer6
ENST00000651111.1:c.-215-2324_-215-2321del	ENSP00000498395.1:n.-215-2324_-215-2321del
ENST00000340855.10:c.369_372del	ENSP00000339801.6:p.Phe123LeufsTer6
ENST00000370441.8:c.369_372del	ENSP00000359470.4:p.Phe123LeufsTer6
ENST00000422081.6:c.-215-2324_-215-2321del	ENSP00000477056.1:n.-215-2324_-215-2321del
ENST00000427113.2:n.770-1138_770-1135del
ENST00000428056.6:c.369_372del	ENSP00000390241.2:p.Phe123LeufsTer6
ENST00000441880.1:n.114-16263_114-16260del
ENST00000464251.5:c.192_195del	ENSP00000428980.1:p.Phe64LeufsTer6
ENST00000466323.5:c.369_372del	ENSP00000418264.1:p.Phe123LeufsTer6
ENST00000490775.5:n.28_31del
ENST00000523759.5:n.533-2324_533-2321del
NM_000202.6:c.369_372del	NP_000193.1:p.Phe123LeufsTer6
NM_001166550.2:c.99_102del	NP_001160022.1:p.Phe33LeufsTer6
NM_006123.4:c.369_372del	NP_006114.1:p.Phe123LeufsTer6
NR_104128.1:n.586_589del
NM_000202.7:c.369_372del	NP_000193.1:p.Phe123LeufsTer6
NM_001166550.3:c.99_102del	NP_001160022.1:p.Phe33LeufsTer6
NM_000202.8:c.369_372del MANE Select	NP_000193.1:p.Phe123LeufsTer6
NM_001166550.4:c.99_102del	NP_001160022.1:p.Phe33LeufsTer6
NM_006123.5:c.369_372del	NP_006114.1:p.Phe123LeufsTer6
NR_104128.2:n.538_541del