Canonical Allele Identifier: CA645068990

Gene: IDS

Linked Data

• dbSNP Id: rs1557338646
• gnomAD v2: X-148572261-T-TACACAGAAACTGATCC
• gnomAD v3: X-149490730-T-TACACAGAAACTGATCC
• gnomAD v4: X-149490730-T-TACACAGAAACTGATCC
• MyVariant Identifiers: chrX:g.148572261_148572262insACACAGAAACTGATCC (hg19) ; chrX:g.149490730_149490731insACACAGAAACTGATCC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149490730_149490731insACACAGAAACTGATCC , CM000685.2:g.149490730_149490731insACACAGAAACTGATCC	GRCh38
NC_000023.10:g.148572261_148572262insACACAGAAACTGATCC , CM000685.1:g.148572261_148572262insACACAGAAACTGATCC	GRCh37
NC_000023.9:g.148380166_148380167insACACAGAAACTGATCC	NCBI36
NG_011900.3:g.19604_19605insGGATCAGTTTCTGTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.880-291_880-290insGGATCAGTTTCTGTGT MANE Select	ENSP00000339801.6:n.880-291_880-290insGGATCAGTTTCTGTGT
ENST00000651111.1:c.247-291_247-290insGGATCAGTTTCTGTGT	ENSP00000498395.1:n.247-291_247-290insGGATCAGTTTCTGTGT
ENST00000340855.10:c.880-291_880-290insGGATCAGTTTCTGTGT	ENSP00000339801.6:n.880-291_880-290insGGATCAGTTTCTGTGT
ENST00000370441.8:c.880-291_880-290insGGATCAGTTTCTGTGT	ENSP00000359470.4:n.880-291_880-290insGGATCAGTTTCTGTGT
ENST00000422081.6:c.247-291_247-290insGGATCAGTTTCTGTGT	ENSP00000477056.1:n.247-291_247-290insGGATCAGTTTCTGTGT
ENST00000441880.1:n.114-3633_114-3632insGGATCAGTTTCTGTGT
ENST00000464251.5:c.806-291_806-290insGGATCAGTTTCTGTGT	ENSP00000428980.1:n.806-291_806-290insGGATCAGTTTCTGTGT
ENST00000466323.5:c.*71-291_*71-290insGGATCAGTTTCTGTGT	ENSP00000418264.1:n.*71-291_*71-290insGGATCAGTTTCTGTGT
ENST00000490775.5:n.665-291_665-290insGGATCAGTTTCTGTGT
NM_000202.6:c.880-291_880-290insGGATCAGTTTCTGTGT	NP_000193.1:n.880-291_880-290insGGATCAGTTTCTGTGT
NM_001166550.2:c.610-291_610-290insGGATCAGTTTCTGTGT	NP_001160022.1:n.610-291_610-290insGGATCAGTTTCTGTGT
NM_006123.4:c.880-291_880-290insGGATCAGTTTCTGTGT	NP_006114.1:n.880-291_880-290insGGATCAGTTTCTGTGT
NR_104128.1:n.1227-291_1227-290insGGATCAGTTTCTGTGT
NM_000202.7:c.880-291_880-290insGGATCAGTTTCTGTGT	NP_000193.1:n.880-291_880-290insGGATCAGTTTCTGTGT
NM_001166550.3:c.610-291_610-290insGGATCAGTTTCTGTGT	NP_001160022.1:n.610-291_610-290insGGATCAGTTTCTGTGT
NM_000202.8:c.880-291_880-290insGGATCAGTTTCTGTGT MANE Select	NP_000193.1:n.880-291_880-290insGGATCAGTTTCTGTGT
NM_001166550.4:c.610-291_610-290insGGATCAGTTTCTGTGT	NP_001160022.1:n.610-291_610-290insGGATCAGTTTCTGTGT
NM_006123.5:c.880-291_880-290insGGATCAGTTTCTGTGT	NP_006114.1:n.880-291_880-290insGGATCAGTTTCTGTGT
NR_104128.2:n.1179-291_1179-290insGGATCAGTTTCTGTGT