Canonical Allele Identifier: CA2830563720

Gene: IDS

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149482991_149482992insC , CM000685.2:g.149482991_149482992insC	GRCh38
NC_000023.10:g.148564522_148564523insC , CM000685.1:g.148564522_148564523insC	GRCh37
NC_000023.9:g.148372427_148372428insC	NCBI36
NG_011900.3:g.27343_27344insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.1407_1408insG MANE Select	ENSP00000339801.6:p.Ser470ValfsTer9
ENST00000651111.1:c.774_775insG	ENSP00000498395.1:p.Ser259ValfsTer9
ENST00000340855.10:c.1407_1408insG	ENSP00000339801.6:p.Ser470ValfsTer9
ENST00000422081.6:c.774_775insG	ENSP00000477056.1:p.Ser259ValfsTer9
NM_000202.6:c.1407_1408insG	NP_000193.1:p.Ser470ValfsTer9
NM_001166550.2:c.1137_1138insG	NP_001160022.1:p.Ser380ValfsTer9
NM_000202.7:c.1407_1408insG	NP_000193.1:p.Ser470ValfsTer9
NM_001166550.3:c.1137_1138insG	NP_001160022.1:p.Ser380ValfsTer9
NM_000202.8:c.1407_1408insG MANE Select	NP_000193.1:p.Ser470ValfsTer9
NM_001166550.4:c.1137_1138insG	NP_001160022.1:p.Ser380ValfsTer9