Canonical Allele Identifier: CA2580101649

Gene: IDS

Linked Data

• ClinVar Variation Id: 2440838
• ClinVar RCV Id: RCV003146139

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149503445_149503447del , CM000685.2:g.149503445_149503447del	GRCh38
NC_000023.10:g.148584975_148584977del , CM000685.1:g.148584975_148584977del	GRCh37
NC_000023.9:g.148392880_148392882del	NCBI36
NG_011900.3:g.6890_6892del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.285_287del MANE Select	ENSP00000339801.6:p.Arg96del
ENST00000651111.1:c.-215-2408_-215-2406del	ENSP00000498395.1:n.-215-2408_-215-2406del
ENST00000340855.10:c.285_287del	ENSP00000339801.6:p.Arg96del
ENST00000370441.8:c.285_287del	ENSP00000359470.4:p.Arg96del
ENST00000422081.6:c.-215-2408_-215-2406del	ENSP00000477056.1:n.-215-2408_-215-2406del
ENST00000427113.2:n.770-1222_770-1220del
ENST00000428056.6:c.285_287del	ENSP00000390241.2:p.Arg96del
ENST00000441880.1:n.114-16347_114-16345del
ENST00000464251.5:c.108_110del	ENSP00000428980.1:p.Arg37del
ENST00000466323.5:c.285_287del	ENSP00000418264.1:p.Arg96del
ENST00000523759.5:n.533-2408_533-2406del
NM_000202.6:c.285_287del	NP_000193.1:p.Arg96del
NM_001166550.2:c.15_17del
NM_006123.4:c.285_287del	NP_006114.1:p.Arg96del
NR_104128.1:n.502_504del
NM_000202.7:c.285_287del	NP_000193.1:p.Arg96del
NM_001166550.3:c.15_17del
NM_000202.8:c.285_287del MANE Select	NP_000193.1:p.Arg96del
NM_001166550.4:c.15_17del
NM_006123.5:c.285_287del	NP_006114.1:p.Arg96del
NR_104128.2:n.454_456del