Canonical Allele Identifier: CA10537556

Gene: IDS

Linked Data

• ClinVar Variation Id: 2998608
• ClinVar RCV Id: RCV003859255
• dbSNP Id: rs781892166
• ExAC: X:148571981 G / GA
• gnomAD v2: X-148571981-G-GA
• gnomAD v3: X-149490450-G-GA
• gnomAD v4: X-149490450-G-GA
• MyVariant Identifiers: chrX:g.148571982_148571983insA (hg19) ; chrX:g.148571981_148571982insA (hg19) ; chrX:g.149490450_149490451insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149490458dup , CM000685.2:g.149490458dup	GRCh38
NC_000023.10:g.148571989dup , CM000685.1:g.148571989dup	GRCh37
NC_000023.9:g.148379894dup	NCBI36
NG_011900.3:g.19884dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.880-11dup MANE Select	ENSP00000339801.6:n.880-11dup
ENST00000651111.1:c.247-11dup	ENSP00000498395.1:n.247-11dup
ENST00000340855.10:c.880-11dup	ENSP00000339801.6:n.880-11dup
ENST00000370441.8:c.880-11dup	ENSP00000359470.4:n.880-11dup
ENST00000422081.6:c.247-11dup	ENSP00000477056.1:n.247-11dup
ENST00000441880.1:n.114-3353dup
ENST00000464251.5:c.806-11dup	ENSP00000428980.1:n.806-11dup
ENST00000466323.5:c.*71-11dup	ENSP00000418264.1:n.*71-11dup
ENST00000490775.5:n.665-11dup
NM_000202.6:c.880-11dup	NP_000193.1:n.880-11dup
NM_001166550.2:c.610-11dup	NP_001160022.1:n.610-11dup
NM_006123.4:c.880-11dup	NP_006114.1:n.880-11dup
NR_104128.1:n.1227-11dup
NM_000202.7:c.880-11dup	NP_000193.1:n.880-11dup
NM_001166550.3:c.610-11dup	NP_001160022.1:n.610-11dup
NM_000202.8:c.880-11dup MANE Select	NP_000193.1:n.880-11dup
NM_001166550.4:c.610-11dup	NP_001160022.1:n.610-11dup
NM_006123.5:c.880-11dup	NP_006114.1:n.880-11dup
NR_104128.2:n.1179-11dup