Canonical Allele Identifier: CA2838031997

Gene: IDS

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149498220dup , CM000685.2:g.149498220dup	GRCh38
NC_000023.10:g.148579751dup , CM000685.1:g.148579751dup	GRCh37
NC_000023.9:g.148387656dup	NCBI36
NG_011900.3:g.12117dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.597dup MANE Select	ENSP00000339801.6:p.Gln200ThrfsTer4
ENST00000651111.1:c.-37dup	ENSP00000498395.1:n.-37dup
ENST00000340855.10:c.597dup	ENSP00000339801.6:p.Gln200ThrfsTer4
ENST00000370441.8:c.597dup	ENSP00000359470.4:p.Gln200ThrfsTer4
ENST00000422081.6:c.-37dup	ENSP00000477056.1:n.-37dup
ENST00000441880.1:n.114-11120dup
ENST00000464251.5:c.523dup	ENSP00000428980.1:n.523dup
ENST00000466019.1:n.49dup
ENST00000466323.5:c.597dup	ENSP00000418264.1:p.Gln200ThrfsTer4
ENST00000490775.5:n.382dup
ENST00000523759.5:n.711dup
NM_000202.6:c.597dup	NP_000193.1:p.Gln200ThrfsTer4
NM_001166550.2:c.327dup	NP_001160022.1:p.Gln110ThrfsTer4
NM_006123.4:c.597dup	NP_006114.1:p.Gln200ThrfsTer4
NR_104128.1:n.814dup
NM_000202.7:c.597dup	NP_000193.1:p.Gln200ThrfsTer4
NM_001166550.3:c.327dup	NP_001160022.1:p.Gln110ThrfsTer4
NM_000202.8:c.597dup MANE Select	NP_000193.1:p.Gln200ThrfsTer4
NM_001166550.4:c.327dup	NP_001160022.1:p.Gln110ThrfsTer4
NM_006123.5:c.597dup	NP_006114.1:p.Gln200ThrfsTer4
NR_104128.2:n.766dup