Canonical Allele Identifier: CA645068981

Gene: IDS

Linked Data

• gnomAD v2: X-148572258-T-TCTCCCTCACATATTCTGATGGGTTCCAAGAGATGAACA
• gnomAD v3: X-149490727-T-TCTCCCTCACATATTCTGATGGGTTCCAAGAGATGAACA
• gnomAD v4: X-149490727-T-TCTCCCTCACATATTCTGATGGGTTCCAAGAGATGAACA
• MyVariant Identifiers: chrX:g.148572258_148572259insCTCCCTCACATATTCTGATGGGTTCCAAGAGATGAACA (hg19) ; chrX:g.149490727_149490728insCTCCCTCACATATTCTGATGGGTTCCAAGAGATGAACA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149490727_149490728insCTCCCTCACATATTCTGATGGGTTCCAAGAGATGAACA , CM000685.2:g.149490727_149490728insCTCCCTCACATATTCTGATGGGTTCCAAGAGATGAACA	GRCh38
NC_000023.10:g.148572258_148572259insCTCCCTCACATATTCTGATGGGTTCCAAGAGATGAACA , CM000685.1:g.148572258_148572259insCTCCCTCACATATTCTGATGGGTTCCAAGAGATGAACA	GRCh37
NC_000023.9:g.148380163_148380164insCTCCCTCACATATTCTGATGGGTTCCAAGAGATGAACA	NCBI36
NG_011900.3:g.19607_19608insTGTTCATCTCTTGGAACCCATCAGAATATGTGAGGGAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.880-288_880-287insTGTTCATCTCTTGGAACCCATCAGAATATGTGAGGGAG MANE Select	ENSP00000339801.6:n.880-288_880-287insTGTTCATCTCTTGGAACCCATCA...
ENST00000651111.1:c.247-288_247-287insTGTTCATCTCTTGGAACCCATCAGAATATGTGAGGGAG	ENSP00000498395.1:n.247-288_247-287insTGTTCATCTCTTGGAACCCATCA...
ENST00000340855.10:c.880-288_880-287insTGTTCATCTCTTGGAACCCATCAGAATATGTGAGGGAG	ENSP00000339801.6:n.880-288_880-287insTGTTCATCTCTTGGAACCCATCA...
ENST00000370441.8:c.880-288_880-287insTGTTCATCTCTTGGAACCCATCAGAATATGTGAGGGAG	ENSP00000359470.4:n.880-288_880-287insTGTTCATCTCTTGGAACCCATCA...
ENST00000422081.6:c.247-288_247-287insTGTTCATCTCTTGGAACCCATCAGAATATGTGAGGGAG	ENSP00000477056.1:n.247-288_247-287insTGTTCATCTCTTGGAACCCATCA...
ENST00000441880.1:n.114-3630_114-3629insTGTTCATCTCTTGGAACCCATCAGAATATGTGAGGGAG
ENST00000464251.5:c.806-288_806-287insTGTTCATCTCTTGGAACCCATCAGAATATGTGAGGGAG	ENSP00000428980.1:n.806-288_806-287insTGTTCATCTCTTGGAACCCATCA...
ENST00000466323.5:c.*71-288_*71-287insTGTTCATCTCTTGGAACCCATCAGAATATGTGAGGGAG	ENSP00000418264.1:n.*71-288_*71-287insTGTTCATCTCTTGGAACCCATCA...
ENST00000490775.5:n.665-288_665-287insTGTTCATCTCTTGGAACCCATCAGAATATGTGAGGGAG
NM_000202.6:c.880-288_880-287insTGTTCATCTCTTGGAACCCATCAGAATATGTGAGGGAG	NP_000193.1:n.880-288_880-287insTGTTCATCTCTTGGAACCCATCAGAATAT...
NM_001166550.2:c.610-288_610-287insTGTTCATCTCTTGGAACCCATCAGAATATGTGAGGGAG	NP_001160022.1:n.610-288_610-287insTGTTCATCTCTTGGAACCCATCAGAA...
NM_006123.4:c.880-288_880-287insTGTTCATCTCTTGGAACCCATCAGAATATGTGAGGGAG	NP_006114.1:n.880-288_880-287insTGTTCATCTCTTGGAACCCATCAGAATAT...
NR_104128.1:n.1227-288_1227-287insTGTTCATCTCTTGGAACCCATCAGAATATGTGAGGGAG
NM_000202.7:c.880-288_880-287insTGTTCATCTCTTGGAACCCATCAGAATATGTGAGGGAG	NP_000193.1:n.880-288_880-287insTGTTCATCTCTTGGAACCCATCAGAATAT...
NM_001166550.3:c.610-288_610-287insTGTTCATCTCTTGGAACCCATCAGAATATGTGAGGGAG	NP_001160022.1:n.610-288_610-287insTGTTCATCTCTTGGAACCCATCAGAA...
NM_000202.8:c.880-288_880-287insTGTTCATCTCTTGGAACCCATCAGAATATGTGAGGGAG MANE Select	NP_000193.1:n.880-288_880-287insTGTTCATCTCTTGGAACCCATCAGAATAT...
NM_001166550.4:c.610-288_610-287insTGTTCATCTCTTGGAACCCATCAGAATATGTGAGGGAG	NP_001160022.1:n.610-288_610-287insTGTTCATCTCTTGGAACCCATCAGAA...
NM_006123.5:c.880-288_880-287insTGTTCATCTCTTGGAACCCATCAGAATATGTGAGGGAG	NP_006114.1:n.880-288_880-287insTGTTCATCTCTTGGAACCCATCAGAATAT...
NR_104128.2:n.1179-288_1179-287insTGTTCATCTCTTGGAACCCATCAGAATATGTGAGGGAG