Canonical Allele Identifier: CA2465009222
Gene: IDS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.149498187_149498190delinsCCAA , CM000685.2:g.149498187_149498190delinsCCAA GRCh38
NC_000023.10:g.148579718_148579721delinsCCAA , CM000685.1:g.148579718_148579721delinsCCAA GRCh37
NC_000023.9:g.148387623_148387626delinsCCAA NCBI36
NG_011900.3:g.12145_12148delinsTTGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000340855.11:c.625_628delinsTTGG MANE Select ENSP00000339801.6:p.Leu209=
ENST00000651111.1:c.-9_-6delinsTTGG ENSP00000498395.1:n.-9_-6delinsTTGG
ENST00000340855.10:c.625_628delinsTTGG ENSP00000339801.6:p.Leu209=
ENST00000370441.8:c.625_628delinsTTGG ENSP00000359470.4:p.Leu209=
ENST00000422081.6:c.-9_-6delinsTTGG ENSP00000477056.1:n.-9_-6delinsTTGG
ENST00000441880.1:n.114-11092_114-11089delinsTTGG
ENST00000464251.5:c.551_554delinsTTGG ENSP00000428980.1:n.551_554delinsTTGG
ENST00000466019.1:n.77_80delinsTTGG
ENST00000466323.5:c.625_628delinsTTGG ENSP00000418264.1:p.Leu209=
ENST00000490775.5:n.410_413delinsTTGG
ENST00000523759.5:n.739_742delinsTTGG
NM_000202.6:c.625_628delinsTTGG NP_000193.1:p.Leu209=
NM_001166550.2:c.355_358delinsTTGG NP_001160022.1:p.Leu119=
NM_006123.4:c.625_628delinsTTGG NP_006114.1:p.Leu209=
NR_104128.1:n.842_845delinsTTGG
NM_000202.7:c.625_628delinsTTGG NP_000193.1:p.Leu209=
NM_001166550.3:c.355_358delinsTTGG NP_001160022.1:p.Leu119=
NM_000202.8:c.625_628delinsTTGG MANE Select NP_000193.1:p.Leu209=
NM_001166550.4:c.355_358delinsTTGG NP_001160022.1:p.Leu119=
NM_006123.5:c.625_628delinsTTGG NP_006114.1:p.Leu209=
NR_104128.2:n.794_797delinsTTGG