Canonical Allele Identifier: CA2499226402

Gene: IDS

Linked Data

• ClinVar Variation Id: 1065181
• ClinVar RCV Id: RCV001375631
• dbSNP Id: rs2124065847

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149504200_149504201insTATGCCAGTT , CM000685.2:g.149504200_149504201insTATGCCAGTT	GRCh38
NC_000023.10:g.148585730_148585731insTATGCCAGTT , CM000685.1:g.148585730_148585731insTATGCCAGTT	GRCh37
NC_000023.9:g.148393634_148393635insTATGCCAGTT	NCBI36
NG_011900.3:g.6143_6144insAAACTGGCAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.205_206insAAACTGGCAT MANE Select	ENSP00000339801.6:p.Ser69Ter
ENST00000651111.1:c.-215-3155_-215-3154insAAACTGGCAT	ENSP00000498395.1:n.-215-3155_-215-3154insAAACTGGCAT
ENST00000340855.10:c.205_206insAAACTGGCAT	ENSP00000339801.6:p.Ser69Ter
ENST00000370441.8:c.205_206insAAACTGGCAT	ENSP00000359470.4:p.Ser69Ter
ENST00000422081.6:c.-215-3155_-215-3154insAAACTGGCAT	ENSP00000477056.1:n.-215-3155_-215-3154insAAACTGGCAT
ENST00000427113.2:n.770-1969_770-1968insAAACTGGCAT
ENST00000428056.6:c.205_206insAAACTGGCAT	ENSP00000390241.2:p.Ser69Ter
ENST00000441880.1:n.114-17094_114-17093insAAACTGGCAT
ENST00000464251.5:c.28_29insAAACTGGCAT	ENSP00000428980.1:p.Ser10Ter
ENST00000466323.5:c.205_206insAAACTGGCAT	ENSP00000418264.1:p.Ser69Ter
ENST00000521702.1:c.205_206insAAACTGGCAT	ENSP00000429745.1:p.Ser69Ter
ENST00000523759.5:n.533-3155_533-3154insAAACTGGCAT
NM_000202.6:c.205_206insAAACTGGCAT	NP_000193.1:p.Ser69Ter
NM_001166550.2:c.-22_-21insAAACTGGCAT	NP_001160022.1:n.-22_-21insAAACTGGCAT
NM_006123.4:c.205_206insAAACTGGCAT	NP_006114.1:p.Ser69Ter
NR_104128.1:n.422_423insAAACTGGCAT
NM_000202.7:c.205_206insAAACTGGCAT	NP_000193.1:p.Ser69Ter
NM_001166550.3:c.-22_-21insAAACTGGCAT	NP_001160022.1:n.-22_-21insAAACTGGCAT
NM_000202.8:c.205_206insAAACTGGCAT MANE Select	NP_000193.1:p.Ser69Ter
NM_001166550.4:c.-22_-21insAAACTGGCAT	NP_001160022.1:n.-22_-21insAAACTGGCAT
NM_006123.5:c.205_206insAAACTGGCAT	NP_006114.1:p.Ser69Ter
NR_104128.2:n.374_375insAAACTGGCAT