Canonical Allele Identifier: CA1138320148

Gene: IDS

Linked Data

• gnomAD v3: X-149490724-C-CCTTTCTGTCTCCCTCACATATTCTGATGGGTTCCAAGAGATGAACA
• gnomAD v4: X-149490724-C-CCTTTCTGTCTCCCTCACATATTCTGATGGGTTCCAAGAGATGAACA

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149490724_149490725insCTTTCTGTCTCCCTCACATATTCTGATGGGTTCCAAGAGATGAACA , CM000685.2:g.149490724_149490725insCTTTCTGTCTCCCTCACATATTCTGATGGGTTCCAAGAGATGAACA	GRCh38
NC_000023.10:g.148572255_148572256insCTTTCTGTCTCCCTCACATATTCTGATGGGTTCCAAGAGATGAACA , CM000685.1:g.148572255_148572256insCTTTCTGTCTCCCTCACATATTCTGATGGGTTCCAAGAGATGAACA	GRCh37
NC_000023.9:g.148380160_148380161insCTTTCTGTCTCCCTCACATATTCTGATGGGTTCCAAGAGATGAACA	NCBI36
NG_011900.3:g.19610_19611insTGTTCATCTCTTGGAACCCATCAGAATATGTGAGGGAGACAGAAAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.880-285_880-284insTGTTCATCTCTTGGAACCCATCAGAATATGTGAGGGAGACAGAAAG MANE Select	ENSP00000339801.6:n.880-285_880-284insTGTTCATCTCTTGGAACCCATCA...
ENST00000651111.1:c.247-285_247-284insTGTTCATCTCTTGGAACCCATCAGAATATGTGAGGGAGACAGAAAG	ENSP00000498395.1:n.247-285_247-284insTGTTCATCTCTTGGAACCCATCA...
ENST00000340855.10:c.880-285_880-284insTGTTCATCTCTTGGAACCCATCAGAATATGTGAGGGAGACAGAAAG	ENSP00000339801.6:n.880-285_880-284insTGTTCATCTCTTGGAACCCATCA...
ENST00000370441.8:c.880-285_880-284insTGTTCATCTCTTGGAACCCATCAGAATATGTGAGGGAGACAGAAAG	ENSP00000359470.4:n.880-285_880-284insTGTTCATCTCTTGGAACCCATCA...
ENST00000422081.6:c.247-285_247-284insTGTTCATCTCTTGGAACCCATCAGAATATGTGAGGGAGACAGAAAG	ENSP00000477056.1:n.247-285_247-284insTGTTCATCTCTTGGAACCCATCA...
ENST00000441880.1:n.114-3627_114-3626insTGTTCATCTCTTGGAACCCATCAGAATATGTGAGGGAGACAGAAAG
ENST00000464251.5:c.806-285_806-284insTGTTCATCTCTTGGAACCCATCAGAATATGTGAGGGAGACAGAAAG	ENSP00000428980.1:n.806-285_806-284insTGTTCATCTCTTGGAACCCATCA...
ENST00000466323.5:c.*71-285_*71-284insTGTTCATCTCTTGGAACCCATCAGAATATGTGAGGGAGACAGAAAG	ENSP00000418264.1:n.*71-285_*71-284insTGTTCATCTCTTGGAACCCATCA...
ENST00000490775.5:n.665-285_665-284insTGTTCATCTCTTGGAACCCATCAGAATATGTGAGGGAGACAGAAAG
NM_000202.6:c.880-285_880-284insTGTTCATCTCTTGGAACCCATCAGAATATGTGAGGGAGACAGAAAG	NP_000193.1:n.880-285_880-284insTGTTCATCTCTTGGAACCCATCAGAATAT...
NM_001166550.2:c.610-285_610-284insTGTTCATCTCTTGGAACCCATCAGAATATGTGAGGGAGACAGAAAG	NP_001160022.1:n.610-285_610-284insTGTTCATCTCTTGGAACCCATCAGAA...
NM_006123.4:c.880-285_880-284insTGTTCATCTCTTGGAACCCATCAGAATATGTGAGGGAGACAGAAAG	NP_006114.1:n.880-285_880-284insTGTTCATCTCTTGGAACCCATCAGAATAT...
NR_104128.1:n.1227-285_1227-284insTGTTCATCTCTTGGAACCCATCAGAATATGTGAGGGAGACAGAAAG
NM_000202.7:c.880-285_880-284insTGTTCATCTCTTGGAACCCATCAGAATATGTGAGGGAGACAGAAAG	NP_000193.1:n.880-285_880-284insTGTTCATCTCTTGGAACCCATCAGAATAT...
NM_001166550.3:c.610-285_610-284insTGTTCATCTCTTGGAACCCATCAGAATATGTGAGGGAGACAGAAAG	NP_001160022.1:n.610-285_610-284insTGTTCATCTCTTGGAACCCATCAGAA...
NM_000202.8:c.880-285_880-284insTGTTCATCTCTTGGAACCCATCAGAATATGTGAGGGAGACAGAAAG MANE Select	NP_000193.1:n.880-285_880-284insTGTTCATCTCTTGGAACCCATCAGAATAT...
NM_001166550.4:c.610-285_610-284insTGTTCATCTCTTGGAACCCATCAGAATATGTGAGGGAGACAGAAAG	NP_001160022.1:n.610-285_610-284insTGTTCATCTCTTGGAACCCATCAGAA...
NM_006123.5:c.880-285_880-284insTGTTCATCTCTTGGAACCCATCAGAATATGTGAGGGAGACAGAAAG	NP_006114.1:n.880-285_880-284insTGTTCATCTCTTGGAACCCATCAGAATAT...
NR_104128.2:n.1179-285_1179-284insTGTTCATCTCTTGGAACCCATCAGAATATGTGAGGGAGACAGAAAG