Canonical Allele Identifier: CA2695236507

Gene: IDS

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149483047_149483048insATCG , CM000685.2:g.149483047_149483048insATCG	GRCh38
NC_000023.10:g.148564578_148564579insATCG , CM000685.1:g.148564578_148564579insATCG	GRCh37
NC_000023.9:g.148372483_148372484insATCG	NCBI36
NG_011900.3:g.27289_27290insATCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.1353_1354insATCG MANE Select	ENSP00000339801.6:p.Tyr452IlefsTer6
ENST00000651111.1:c.720_721insATCG	ENSP00000498395.1:p.Tyr241IlefsTer6
ENST00000340855.10:c.1353_1354insATCG	ENSP00000339801.6:p.Tyr452IlefsTer6
ENST00000422081.6:c.720_721insATCG	ENSP00000477056.1:p.Tyr241IlefsTer6
NM_000202.6:c.1353_1354insATCG	NP_000193.1:p.Tyr452IlefsTer6
NM_001166550.2:c.1083_1084insATCG	NP_001160022.1:p.Tyr362IlefsTer6
NM_000202.7:c.1353_1354insATCG	NP_000193.1:p.Tyr452IlefsTer6
NM_001166550.3:c.1083_1084insATCG	NP_001160022.1:p.Tyr362IlefsTer6
NM_000202.8:c.1353_1354insATCG MANE Select	NP_000193.1:p.Tyr452IlefsTer6
NM_001166550.4:c.1083_1084insATCG	NP_001160022.1:p.Tyr362IlefsTer6