Canonical Allele Identifier: CA2465005559

Gene: IDS

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149486971_149486973delinsGAA , CM000685.2:g.149486971_149486973delinsGAA	GRCh38
NC_000023.10:g.148568502_148568504delinsGAA , CM000685.1:g.148568502_148568504delinsGAA	GRCh37
NC_000023.9:g.148376407_148376409delinsGAA	NCBI36
NG_011900.3:g.23362_23364delinsTTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.1132_1134delinsTTC MANE Select	ENSP00000339801.6:p.Phe378=
ENST00000651111.1:c.499_501delinsTTC	ENSP00000498395.1:p.Phe167=
ENST00000340855.10:c.1132_1134delinsTTC	ENSP00000339801.6:p.Phe378=
ENST00000422081.6:c.499_501delinsTTC	ENSP00000477056.1:p.Phe167=
ENST00000441880.1:n.239_241delinsTTC
NM_000202.6:c.1132_1134delinsTTC	NP_000193.1:p.Phe378=
NM_001166550.2:c.862_864delinsTTC	NP_001160022.1:p.Phe288=
NM_000202.7:c.1132_1134delinsTTC	NP_000193.1:p.Phe378=
NM_001166550.3:c.862_864delinsTTC	NP_001160022.1:p.Phe288=
NM_000202.8:c.1132_1134delinsTTC MANE Select	NP_000193.1:p.Phe378=
NM_001166550.4:c.862_864delinsTTC	NP_001160022.1:p.Phe288=