Canonical Allele Identifier: CA2465009260
Gene: IDS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.149498304_149498306delinsATG , CM000685.2:g.149498304_149498306delinsATG GRCh38
NC_000023.10:g.148579835_148579837delinsATG , CM000685.1:g.148579835_148579837delinsATG GRCh37
NC_000023.9:g.148387740_148387742delinsATG NCBI36
NG_011900.3:g.12029_12031delinsCAT

Transcript Alleles

HGVS Amino-acid change
ENST00000340855.11:c.509_511delinsCAT MANE Select ENSP00000339801.6:p.Thr170=
ENST00000651111.1:c.-125_-123delinsCAT ENSP00000498395.1:n.-125_-123delinsCAT
ENST00000340855.10:c.509_511delinsCAT ENSP00000339801.6:p.Thr170=
ENST00000370441.8:c.509_511delinsCAT ENSP00000359470.4:p.Thr170=
ENST00000422081.6:c.-125_-123delinsCAT ENSP00000477056.1:n.-125_-123delinsCAT
ENST00000441880.1:n.114-11208_114-11206delinsCAT
ENST00000464251.5:c.435_437delinsCAT ENSP00000428980.1:n.435_437delinsCAT
ENST00000466323.5:c.509_511delinsCAT ENSP00000418264.1:p.Thr170=
ENST00000490775.5:n.294_296delinsCAT
ENST00000523759.5:n.623_625delinsCAT
NM_000202.6:c.509_511delinsCAT NP_000193.1:p.Thr170=
NM_001166550.2:c.239_241delinsCAT NP_001160022.1:p.Thr80=
NM_006123.4:c.509_511delinsCAT NP_006114.1:p.Thr170=
NR_104128.1:n.726_728delinsCAT
NM_000202.7:c.509_511delinsCAT NP_000193.1:p.Thr170=
NM_001166550.3:c.239_241delinsCAT NP_001160022.1:p.Thr80=
NM_000202.8:c.509_511delinsCAT MANE Select NP_000193.1:p.Thr170=
NM_001166550.4:c.239_241delinsCAT NP_001160022.1:p.Thr80=
NM_006123.5:c.509_511delinsCAT NP_006114.1:p.Thr170=
NR_104128.2:n.678_680delinsCAT