Allele Registry

Canonical Allele Identifier: CA234126

Gene: IDS HGNC NCBI

Linked Data - Variant Effect Evidence

MyVariant.info:

GRCh38 chrX:g.149486957del

GRCh37 chrX:g.148568488del

GRCh37 chrX:g.148568488delG

Linked Data - NCBI & NCI

ClinVar RCV:

RCV000180106

ClinVar Variation:

167188

dbSNP:

797044502

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149486959del , CM000685.2:g.149486959del	GRCh38
NC_000023.10:g.148568490del , CM000685.1:g.148568490del	GRCh37
NC_000023.9:g.148376395del	NCBI36
NG_011900.3:g.23378del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.1148del MANE Select	ENSP00000339801.6:p.Pro383LeufsTer8
ENST00000651111.1:c.515del	ENSP00000498395.1:p.Pro172LeufsTer8
ENST00000340855.10:c.1148del	ENSP00000339801.6:p.Pro383LeufsTer8
ENST00000422081.6:c.515del	ENSP00000477056.1:p.Pro172LeufsTer8
ENST00000441880.1:n.255del
NM_000202.6:c.1148del	NP_000193.1:p.Pro383LeufsTer8
NM_001166550.2:c.878del	NP_001160022.1:p.Pro293LeufsTer8
NM_000202.7:c.1148del	NP_000193.1:p.Pro383LeufsTer8
NM_001166550.3:c.878del	NP_001160022.1:p.Pro293LeufsTer8
NM_000202.8:c.1148del MANE Select	NP_000193.1:p.Pro383LeufsTer8
NM_001166550.4:c.878del	NP_001160022.1:p.Pro293LeufsTer8

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