Canonical Allele Identifier: CA2695236650

Gene: IDS

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149498219_149498233delinsC , CM000685.2:g.149498219_149498233delinsC	GRCh38
NC_000023.10:g.148579750_148579764delinsC , CM000685.1:g.148579750_148579764delinsC	GRCh37
NC_000023.9:g.148387655_148387669delinsC	NCBI36
NG_011900.3:g.12102_12116delinsG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.582_596delinsG MANE Select	ENSP00000339801.6:p.Leu196GlufsTer3
ENST00000651111.1:c.-52_-38delinsG	ENSP00000498395.1:n.-52_-38delinsG
ENST00000340855.10:c.582_596delinsG	ENSP00000339801.6:p.Leu196GlufsTer3
ENST00000370441.8:c.582_596delinsG	ENSP00000359470.4:p.Leu196GlufsTer3
ENST00000422081.6:c.-52_-38delinsG	ENSP00000477056.1:n.-52_-38delinsG
ENST00000441880.1:n.114-11135_114-11121delinsG
ENST00000464251.5:c.508_522delinsG	ENSP00000428980.1:n.508_522delinsG
ENST00000466019.1:n.34_48delinsG
ENST00000466323.5:c.582_596delinsG	ENSP00000418264.1:p.Leu196GlufsTer3
ENST00000490775.5:n.367_381delinsG
ENST00000523759.5:n.696_710delinsG
NM_000202.6:c.582_596delinsG	NP_000193.1:p.Leu196GlufsTer3
NM_001166550.2:c.312_326delinsG	NP_001160022.1:p.Leu106GlufsTer3
NM_006123.4:c.582_596delinsG	NP_006114.1:p.Leu196GlufsTer3
NR_104128.1:n.799_813delinsG
NM_000202.7:c.582_596delinsG	NP_000193.1:p.Leu196GlufsTer3
NM_001166550.3:c.312_326delinsG	NP_001160022.1:p.Leu106GlufsTer3
NM_000202.8:c.582_596delinsG MANE Select	NP_000193.1:p.Leu196GlufsTer3
NM_001166550.4:c.312_326delinsG	NP_001160022.1:p.Leu106GlufsTer3
NM_006123.5:c.582_596delinsG	NP_006114.1:p.Leu196GlufsTer3
NR_104128.2:n.751_765delinsG