Canonical Allele Identifier: CA2580101703
Gene: IDS HGNC NCBI

Linked Data

ClinVar Variation Id: 1781488
ClinVar RCV Id: RCV002414905

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.149504060_149504212del , CM000685.2:g.149504060_149504212del GRCh38
NC_000023.10:g.148585590_148585742del , CM000685.1:g.148585590_148585742del GRCh37
NC_000023.9:g.148393494_148393646del NCBI36
NG_011900.3:g.6124_6276del

Transcript Alleles

HGVS Amino-acid Change
ENST00000340855.11:c.186_240+98del
ENST00000651111.1:c.-215-3174_-215-3022del ENSP00000498395.1:n.-215-3174_-215-3022del
ENST00000340855.10:c.186_240+98del
ENST00000370441.8:c.186_240+98del
ENST00000422081.6:c.-215-3174_-215-3022del ENSP00000477056.1:n.-215-3174_-215-3022del
ENST00000427113.2:n.770-1988_770-1836del
ENST00000428056.6:c.186_240+98del
ENST00000441880.1:n.114-17113_114-16961del
ENST00000464251.5:c.9_63+98del
ENST00000466323.5:c.186_240+98del
ENST00000521702.1:c.186_240+98del
ENST00000523759.5:n.533-3174_533-3022del
NM_000202.6:c.186_240+98del
NM_001166550.2:c.-41_14+98del
NM_006123.4:c.186_240+98del
NR_104128.1:n.403_457+98del
NM_000202.7:c.186_240+98del
NM_001166550.3:c.-41_14+98del
NM_000202.8:c.186_240+98del
NM_001166550.4:c.-41_14+98del
NM_006123.5:c.186_240+98del
NR_104128.2:n.355_409+98del