Canonical Allele Identifier: CA2695236540

Gene: IDS

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149487078_149487079delinsAT , CM000685.2:g.149487078_149487079delinsAT	GRCh38
NC_000023.10:g.148568609_148568610delinsAT , CM000685.1:g.148568609_148568610delinsAT	GRCh37
NC_000023.9:g.148376514_148376515delinsAT	NCBI36
NG_011900.3:g.23256_23257delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.1026_1027delinsAT MANE Select	ENSP00000339801.6:p.His342GlnfsTer2
ENST00000651111.1:c.393_394delinsAT	ENSP00000498395.1:p.His131GlnfsTer2
ENST00000340855.10:c.1026_1027delinsAT	ENSP00000339801.6:p.His342GlnfsTer2
ENST00000422081.6:c.393_394delinsAT	ENSP00000477056.1:p.His131GlnfsTer2
ENST00000441880.1:n.133_134delinsAT
NM_000202.6:c.1026_1027delinsAT	NP_000193.1:p.His342GlnfsTer2
NM_001166550.2:c.756_757delinsAT	NP_001160022.1:p.His252GlnfsTer2
NM_000202.7:c.1026_1027delinsAT	NP_000193.1:p.His342GlnfsTer2
NM_001166550.3:c.756_757delinsAT	NP_001160022.1:p.His252GlnfsTer2
NM_000202.8:c.1026_1027delinsAT MANE Select	NP_000193.1:p.His342GlnfsTer2
NM_001166550.4:c.756_757delinsAT	NP_001160022.1:p.His252GlnfsTer2