Canonical Allele Identifier: CA645068993

Gene: IDS

Linked Data

• dbSNP Id: rs1557338654
• gnomAD v2: X-148572265-A-AAGGGCCACAAAGATACAATTC
• gnomAD v3: X-149490734-A-AAGGGCCACAAAGATACAATTC
• gnomAD v4: X-149490734-A-AAGGGCCACAAAGATACAATTC
• MyVariant Identifiers: chrX:g.148572265_148572266insAGGGCCACAAAGATACAATTC (hg19) ; chrX:g.149490734_149490735insAGGGCCACAAAGATACAATTC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149490736_149490737insGGCCACAAAGATACAATTCAG , CM000685.2:g.149490736_149490737insGGCCACAAAGATACAATTCAG	GRCh38
NC_000023.10:g.148572267_148572268insGGCCACAAAGATACAATTCAG , CM000685.1:g.148572267_148572268insGGCCACAAAGATACAATTCAG	GRCh37
NC_000023.9:g.148380172_148380173insGGCCACAAAGATACAATTCAG	NCBI36
NG_011900.3:g.19600_19601insGAATTGTATCTTTGTGGCCCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.880-295_880-294insGAATTGTATCTTTGTGGCCCT MANE Select	ENSP00000339801.6:n.880-295_880-294insGAATTGTATCTTTGTGGCCCT
ENST00000651111.1:c.247-295_247-294insGAATTGTATCTTTGTGGCCCT	ENSP00000498395.1:n.247-295_247-294insGAATTGTATCTTTGTGGCCCT
ENST00000340855.10:c.880-295_880-294insGAATTGTATCTTTGTGGCCCT	ENSP00000339801.6:n.880-295_880-294insGAATTGTATCTTTGTGGCCCT
ENST00000370441.8:c.880-295_880-294insGAATTGTATCTTTGTGGCCCT	ENSP00000359470.4:n.880-295_880-294insGAATTGTATCTTTGTGGCCCT
ENST00000422081.6:c.247-295_247-294insGAATTGTATCTTTGTGGCCCT	ENSP00000477056.1:n.247-295_247-294insGAATTGTATCTTTGTGGCCCT
ENST00000441880.1:n.114-3637_114-3636insGAATTGTATCTTTGTGGCCCT
ENST00000464251.5:c.806-295_806-294insGAATTGTATCTTTGTGGCCCT	ENSP00000428980.1:n.806-295_806-294insGAATTGTATCTTTGTGGCCCT
ENST00000466323.5:c.*71-295_*71-294insGAATTGTATCTTTGTGGCCCT	ENSP00000418264.1:n.*71-295_*71-294insGAATTGTATCTTTGTGGCCCT
ENST00000490775.5:n.665-295_665-294insGAATTGTATCTTTGTGGCCCT
NM_000202.6:c.880-295_880-294insGAATTGTATCTTTGTGGCCCT	NP_000193.1:n.880-295_880-294insGAATTGTATCTTTGTGGCCCT
NM_001166550.2:c.610-295_610-294insGAATTGTATCTTTGTGGCCCT	NP_001160022.1:n.610-295_610-294insGAATTGTATCTTTGTGGCCCT
NM_006123.4:c.880-295_880-294insGAATTGTATCTTTGTGGCCCT	NP_006114.1:n.880-295_880-294insGAATTGTATCTTTGTGGCCCT
NR_104128.1:n.1227-295_1227-294insGAATTGTATCTTTGTGGCCCT
NM_000202.7:c.880-295_880-294insGAATTGTATCTTTGTGGCCCT	NP_000193.1:n.880-295_880-294insGAATTGTATCTTTGTGGCCCT
NM_001166550.3:c.610-295_610-294insGAATTGTATCTTTGTGGCCCT	NP_001160022.1:n.610-295_610-294insGAATTGTATCTTTGTGGCCCT
NM_000202.8:c.880-295_880-294insGAATTGTATCTTTGTGGCCCT MANE Select	NP_000193.1:n.880-295_880-294insGAATTGTATCTTTGTGGCCCT
NM_001166550.4:c.610-295_610-294insGAATTGTATCTTTGTGGCCCT	NP_001160022.1:n.610-295_610-294insGAATTGTATCTTTGTGGCCCT
NM_006123.5:c.880-295_880-294insGAATTGTATCTTTGTGGCCCT	NP_006114.1:n.880-295_880-294insGAATTGTATCTTTGTGGCCCT
NR_104128.2:n.1179-295_1179-294insGAATTGTATCTTTGTGGCCCT