Canonical Allele Identifier: CA2465005633
Gene: IDS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.149487169_149487174delinsCCATTT , CM000685.2:g.149487169_149487174delinsCCATTT GRCh38
NC_000023.10:g.148568700_148568705delinsCCATTT , CM000685.1:g.148568700_148568705delinsCCATTT GRCh37
NC_000023.9:g.148376605_148376610delinsCCATTT NCBI36
NG_011900.3:g.23161_23166delinsAAATGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000340855.11:c.1007-76_1007-71delinsAAATGG MANE Select ENSP00000339801.6:n.1007-76_1007-71delinsAAATGG
ENST00000651111.1:c.374-76_374-71delinsAAATGG ENSP00000498395.1:n.374-76_374-71delinsAAATGG
ENST00000340855.10:c.1007-76_1007-71delinsAAATGG ENSP00000339801.6:n.1007-76_1007-71delinsAAATGG
ENST00000370441.8:c.*114_*119delinsAAATGG ENSP00000359470.4:n.*114_*119delinsAAATGG
ENST00000422081.6:c.374-76_374-71delinsAAATGG ENSP00000477056.1:n.374-76_374-71delinsAAATGG
ENST00000441880.1:n.114-76_114-71delinsAAATGG
ENST00000466323.5:c.*337_*342delinsAAATGG ENSP00000418264.1:n.*337_*342delinsAAATGG
ENST00000490775.5:n.931_936delinsAAATGG
NM_000202.6:c.1007-76_1007-71delinsAAATGG NP_000193.1:n.1007-76_1007-71delinsAAATGG
NM_001166550.2:c.737-76_737-71delinsAAATGG NP_001160022.1:n.737-76_737-71delinsAAATGG
NM_006123.4:c.*114_*119delinsAAATGG NP_006114.1:n.*114_*119delinsAAATGG
NR_104128.1:n.1493_1498delinsAAATGG
NM_000202.7:c.1007-76_1007-71delinsAAATGG NP_000193.1:n.1007-76_1007-71delinsAAATGG
NM_001166550.3:c.737-76_737-71delinsAAATGG NP_001160022.1:n.737-76_737-71delinsAAATGG
NM_000202.8:c.1007-76_1007-71delinsAAATGG MANE Select NP_000193.1:n.1007-76_1007-71delinsAAATGG
NM_001166550.4:c.737-76_737-71delinsAAATGG NP_001160022.1:n.737-76_737-71delinsAAATGG
NM_006123.5:c.*114_*119delinsAAATGG NP_006114.1:n.*114_*119delinsAAATGG
NR_104128.2:n.1445_1450delinsAAATGG