Canonical Allele Identifier: CA2465009234

Gene: IDS

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149498217_149498218delinsGT , CM000685.2:g.149498217_149498218delinsGT	GRCh38
NC_000023.10:g.148579748_148579749delinsGT , CM000685.1:g.148579748_148579749delinsGT	GRCh37
NC_000023.9:g.148387653_148387654delinsGT	NCBI36
NG_011900.3:g.12117_12118delinsAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.597_598delinsAC MANE Select	ENSP00000339801.6:p.Lys199=
ENST00000651111.1:c.-37_-36delinsAC	ENSP00000498395.1:n.-37_-36delinsAC
ENST00000340855.10:c.597_598delinsAC	ENSP00000339801.6:p.Lys199=
ENST00000370441.8:c.597_598delinsAC	ENSP00000359470.4:p.Lys199=
ENST00000422081.6:c.-37_-36delinsAC	ENSP00000477056.1:n.-37_-36delinsAC
ENST00000441880.1:n.114-11120_114-11119delinsAC
ENST00000464251.5:c.523_524delinsAC	ENSP00000428980.1:n.523_524delinsAC
ENST00000466019.1:n.49_50delinsAC
ENST00000466323.5:c.597_598delinsAC	ENSP00000418264.1:p.Lys199=
ENST00000490775.5:n.382_383delinsAC
ENST00000523759.5:n.711_712delinsAC
NM_000202.6:c.597_598delinsAC	NP_000193.1:p.Lys199=
NM_001166550.2:c.327_328delinsAC	NP_001160022.1:p.Lys109=
NM_006123.4:c.597_598delinsAC	NP_006114.1:p.Lys199=
NR_104128.1:n.814_815delinsAC
NM_000202.7:c.597_598delinsAC	NP_000193.1:p.Lys199=
NM_001166550.3:c.327_328delinsAC	NP_001160022.1:p.Lys109=
NM_000202.8:c.597_598delinsAC MANE Select	NP_000193.1:p.Lys199=
NM_001166550.4:c.327_328delinsAC	NP_001160022.1:p.Lys109=
NM_006123.5:c.597_598delinsAC	NP_006114.1:p.Lys199=
NR_104128.2:n.766_767delinsAC