Canonical Allele Identifier: CA2465010848

Gene: IDS

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149503318_149503319delinsGA , CM000685.2:g.149503318_149503319delinsGA	GRCh38
NC_000023.10:g.148584848_148584849delinsGA , CM000685.1:g.148584848_148584849delinsGA	GRCh37
NC_000023.9:g.148392753_148392754delinsGA	NCBI36
NG_011900.3:g.7016_7017delinsTC

Transcript Alleles

HGVS	Amino-acid change
ENST00000340855.11:c.411_412delinsTC MANE Select	ENSP00000339801.6:p.Phe137=
ENST00000651111.1:c.-215-2282_-215-2281delinsTC	ENSP00000498395.1:n.-215-2282_-215-2281delinsTC
ENST00000340855.10:c.411_412delinsTC	ENSP00000339801.6:p.Phe137=
ENST00000370441.8:c.411_412delinsTC	ENSP00000359470.4:p.Phe137=
ENST00000422081.6:c.-215-2282_-215-2281delinsTC	ENSP00000477056.1:n.-215-2282_-215-2281delinsTC
ENST00000427113.2:n.770-1096_770-1095delinsTC
ENST00000428056.6:c.411_412delinsTC	ENSP00000390241.2:p.Phe137=
ENST00000441880.1:n.114-16221_114-16220delinsTC
ENST00000464251.5:c.234_235delinsTC	ENSP00000428980.1:p.Phe78=
ENST00000466323.5:c.411_412delinsTC	ENSP00000418264.1:p.Phe137=
ENST00000490775.5:n.70_71delinsTC
ENST00000523759.5:n.533-2282_533-2281delinsTC
NM_000202.6:c.411_412delinsTC	NP_000193.1:p.Phe137=
NM_001166550.2:c.141_142delinsTC	NP_001160022.1:p.Phe47=
NM_006123.4:c.411_412delinsTC	NP_006114.1:p.Phe137=
NR_104128.1:n.628_629delinsTC
NM_000202.7:c.411_412delinsTC	NP_000193.1:p.Phe137=
NM_001166550.3:c.141_142delinsTC	NP_001160022.1:p.Phe47=
NM_000202.8:c.411_412delinsTC MANE Select	NP_000193.1:p.Phe137=
NM_001166550.4:c.141_142delinsTC	NP_001160022.1:p.Phe47=
NM_006123.5:c.411_412delinsTC	NP_006114.1:p.Phe137=
NR_104128.2:n.580_581delinsTC