Canonical Allele Identifier: CA2465006796
Gene: IDS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.149490419_149490421delinsAGT , CM000685.2:g.149490419_149490421delinsAGT GRCh38
NC_000023.10:g.148571950_148571952delinsAGT , CM000685.1:g.148571950_148571952delinsAGT GRCh37
NC_000023.9:g.148379855_148379857delinsAGT NCBI36
NG_011900.3:g.19914_19916delinsACT

Transcript Alleles

HGVS Amino-acid Change
ENST00000340855.11:c.899_901delinsACT MANE Select ENSP00000339801.6:p.Tyr300=
ENST00000651111.1:c.266_268delinsACT ENSP00000498395.1:p.Tyr89=
ENST00000340855.10:c.899_901delinsACT ENSP00000339801.6:p.Tyr300=
ENST00000370441.8:c.899_901delinsACT ENSP00000359470.4:p.Tyr300=
ENST00000422081.6:c.266_268delinsACT ENSP00000477056.1:p.Tyr89=
ENST00000441880.1:n.114-3323_114-3321delinsACT
ENST00000464251.5:c.825_827delinsACT ENSP00000428980.1:n.825_827delinsACT
ENST00000466323.5:c.*90_*92delinsACT ENSP00000418264.1:n.*90_*92delinsACT
ENST00000490775.5:n.684_686delinsACT
NM_000202.6:c.899_901delinsACT NP_000193.1:p.Tyr300=
NM_001166550.2:c.629_631delinsACT NP_001160022.1:p.Tyr210=
NM_006123.4:c.899_901delinsACT NP_006114.1:p.Tyr300=
NR_104128.1:n.1246_1248delinsACT
NM_000202.7:c.899_901delinsACT NP_000193.1:p.Tyr300=
NM_001166550.3:c.629_631delinsACT NP_001160022.1:p.Tyr210=
NM_000202.8:c.899_901delinsACT MANE Select NP_000193.1:p.Tyr300=
NM_001166550.4:c.629_631delinsACT NP_001160022.1:p.Tyr210=
NM_006123.5:c.899_901delinsACT NP_006114.1:p.Tyr300=
NR_104128.2:n.1198_1200delinsACT