Canonical Allele Identifier: CA2695236488

Gene: IDS

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149482940_149483166del , CM000685.2:g.149482940_149483166del	GRCh38
NC_000023.10:g.148564471_148564697del , CM000685.1:g.148564471_148564697del	GRCh37
NC_000023.9:g.148372376_148372602del	NCBI36
NG_011900.3:g.27170_27396del

Transcript Alleles

HGVS	Amino-acid change
ENST00000340855.11:c.1234_1460del MANE Select	ENSP00000339801.6:p.Gly412HisfsTer11
ENST00000651111.1:c.601_827del	ENSP00000498395.1:p.Gly201HisfsTer11
ENST00000340855.10:c.1234_1460del	ENSP00000339801.6:p.Gly412HisfsTer11
ENST00000422081.6:c.601_827del	ENSP00000477056.1:p.Gly201HisfsTer11
NM_000202.6:c.1234_1460del	NP_000193.1:p.Gly412HisfsTer11
NM_001166550.2:c.964_1190del	NP_001160022.1:p.Gly322HisfsTer11
NM_000202.7:c.1234_1460del	NP_000193.1:p.Gly412HisfsTer11
NM_001166550.3:c.964_1190del	NP_001160022.1:p.Gly322HisfsTer11
NM_000202.8:c.1234_1460del MANE Select	NP_000193.1:p.Gly412HisfsTer11
NM_001166550.4:c.964_1190del	NP_001160022.1:p.Gly322HisfsTer11