Canonical Allele Identifier: CA1138320195

Gene: IDS

Linked Data

• dbSNP Id: rs2089383829
• gnomAD v3: X-149490731-T-TCCAAGAGATGAACATGTACACAGAAACTGATCC
• gnomAD v4: X-149490731-T-TCCAAGAGATGAACATGTACACAGAAACTGATCC

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149490731_149490732insCCAAGAGATGAACATGTACACAGAAACTGATCC , CM000685.2:g.149490731_149490732insCCAAGAGATGAACATGTACACAGAAACTGATCC	GRCh38
NC_000023.10:g.148572262_148572263insCCAAGAGATGAACATGTACACAGAAACTGATCC , CM000685.1:g.148572262_148572263insCCAAGAGATGAACATGTACACAGAAACTGATCC	GRCh37
NC_000023.9:g.148380167_148380168insCCAAGAGATGAACATGTACACAGAAACTGATCC	NCBI36
NG_011900.3:g.19603_19604insGGATCAGTTTCTGTGTACATGTTCATCTCTTGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.880-292_880-291insGGATCAGTTTCTGTGTACATGTTCATCTCTTGG MANE Select	ENSP00000339801.6:n.880-292_880-291insGGATCAGTTTCTGTGTACATGTT...
ENST00000651111.1:c.247-292_247-291insGGATCAGTTTCTGTGTACATGTTCATCTCTTGG	ENSP00000498395.1:n.247-292_247-291insGGATCAGTTTCTGTGTACATGTT...
ENST00000340855.10:c.880-292_880-291insGGATCAGTTTCTGTGTACATGTTCATCTCTTGG	ENSP00000339801.6:n.880-292_880-291insGGATCAGTTTCTGTGTACATGTT...
ENST00000370441.8:c.880-292_880-291insGGATCAGTTTCTGTGTACATGTTCATCTCTTGG	ENSP00000359470.4:n.880-292_880-291insGGATCAGTTTCTGTGTACATGTT...
ENST00000422081.6:c.247-292_247-291insGGATCAGTTTCTGTGTACATGTTCATCTCTTGG	ENSP00000477056.1:n.247-292_247-291insGGATCAGTTTCTGTGTACATGTT...
ENST00000441880.1:n.114-3634_114-3633insGGATCAGTTTCTGTGTACATGTTCATCTCTTGG
ENST00000464251.5:c.806-292_806-291insGGATCAGTTTCTGTGTACATGTTCATCTCTTGG	ENSP00000428980.1:n.806-292_806-291insGGATCAGTTTCTGTGTACATGTT...
ENST00000466323.5:c.*71-292_*71-291insGGATCAGTTTCTGTGTACATGTTCATCTCTTGG	ENSP00000418264.1:n.*71-292_*71-291insGGATCAGTTTCTGTGTACATGTT...
ENST00000490775.5:n.665-292_665-291insGGATCAGTTTCTGTGTACATGTTCATCTCTTGG
NM_000202.6:c.880-292_880-291insGGATCAGTTTCTGTGTACATGTTCATCTCTTGG	NP_000193.1:n.880-292_880-291insGGATCAGTTTCTGTGTACATGTTCATCTC...
NM_001166550.2:c.610-292_610-291insGGATCAGTTTCTGTGTACATGTTCATCTCTTGG	NP_001160022.1:n.610-292_610-291insGGATCAGTTTCTGTGTACATGTTCAT...
NM_006123.4:c.880-292_880-291insGGATCAGTTTCTGTGTACATGTTCATCTCTTGG	NP_006114.1:n.880-292_880-291insGGATCAGTTTCTGTGTACATGTTCATCTC...
NR_104128.1:n.1227-292_1227-291insGGATCAGTTTCTGTGTACATGTTCATCTCTTGG
NM_000202.7:c.880-292_880-291insGGATCAGTTTCTGTGTACATGTTCATCTCTTGG	NP_000193.1:n.880-292_880-291insGGATCAGTTTCTGTGTACATGTTCATCTC...
NM_001166550.3:c.610-292_610-291insGGATCAGTTTCTGTGTACATGTTCATCTCTTGG	NP_001160022.1:n.610-292_610-291insGGATCAGTTTCTGTGTACATGTTCAT...
NM_000202.8:c.880-292_880-291insGGATCAGTTTCTGTGTACATGTTCATCTCTTGG MANE Select	NP_000193.1:n.880-292_880-291insGGATCAGTTTCTGTGTACATGTTCATCTC...
NM_001166550.4:c.610-292_610-291insGGATCAGTTTCTGTGTACATGTTCATCTCTTGG	NP_001160022.1:n.610-292_610-291insGGATCAGTTTCTGTGTACATGTTCAT...
NM_006123.5:c.880-292_880-291insGGATCAGTTTCTGTGTACATGTTCATCTCTTGG	NP_006114.1:n.880-292_880-291insGGATCAGTTTCTGTGTACATGTTCATCTC...
NR_104128.2:n.1179-292_1179-291insGGATCAGTTTCTGTGTACATGTTCATCTCTTGG