Canonical Allele Identifier: CA2499226418

Gene: IDS

Linked Data

• ClinVar Variation Id: 997039
• ClinVar RCV Id: RCV001568376
• dbSNP Id: rs2124020775

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149490425dup , CM000685.2:g.149490425dup	GRCh38
NC_000023.10:g.148571956dup , CM000685.1:g.148571956dup	GRCh37
NC_000023.9:g.148379861dup	NCBI36
NG_011900.3:g.19910dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.895dup MANE Select	ENSP00000339801.6:p.Ser299LysfsTer?
ENST00000651111.1:c.262dup	ENSP00000498395.1:p.Ser88LysfsTer?
ENST00000340855.10:c.895dup	ENSP00000339801.6:p.Ser299LysfsTer?
ENST00000370441.8:c.895dup	ENSP00000359470.4:p.Ser299LysfsTer?
ENST00000422081.6:c.262dup	ENSP00000477056.1:p.Ser88LysfsTer?
ENST00000441880.1:n.114-3327dup
ENST00000464251.5:c.821dup	ENSP00000428980.1:n.821dup
ENST00000466323.5:c.*86dup	ENSP00000418264.1:n.*86dup
ENST00000490775.5:n.680dup
NM_000202.6:c.895dup	NP_000193.1:p.Ser299LysfsTer?
NM_001166550.2:c.625dup	NP_001160022.1:p.Ser209LysfsTer?
NM_006123.4:c.895dup	NP_006114.1:p.Ser299LysfsTer?
NR_104128.1:n.1242dup
NM_000202.7:c.895dup	NP_000193.1:p.Ser299LysfsTer?
NM_001166550.3:c.625dup	NP_001160022.1:p.Ser209LysfsTer?
NM_000202.8:c.895dup MANE Select	NP_000193.1:p.Ser299LysfsTer?
NM_001166550.4:c.625dup	NP_001160022.1:p.Ser209LysfsTer?
NM_006123.5:c.895dup	NP_006114.1:p.Ser299LysfsTer?
NR_104128.2:n.1194dup