Canonical Allele Identifier: CA2579719104

Gene: IDS

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149483011_149483012del , CM000685.2:g.149483011_149483012del	GRCh38
NC_000023.10:g.148564542_148564543del , CM000685.1:g.148564542_148564543del	GRCh37
NC_000023.9:g.148372447_148372448del	NCBI36
NG_011900.3:g.27325_27326del

Transcript Alleles

HGVS	Amino-acid change
ENST00000340855.11:c.1389_1390del MANE Select	ENSP00000339801.6:p.Tyr463Ter
ENST00000651111.1:c.756_757del	ENSP00000498395.1:p.Tyr252Ter
ENST00000340855.10:c.1389_1390del	ENSP00000339801.6:p.Tyr463Ter
ENST00000422081.6:c.756_757del	ENSP00000477056.1:p.Tyr252Ter
NM_000202.6:c.1389_1390del	NP_000193.1:p.Tyr463Ter
NM_001166550.2:c.1119_1120del	NP_001160022.1:p.Tyr373Ter
NM_000202.7:c.1389_1390del	NP_000193.1:p.Tyr463Ter
NM_001166550.3:c.1119_1120del	NP_001160022.1:p.Tyr373Ter
NM_000202.8:c.1389_1390del MANE Select	NP_000193.1:p.Tyr463Ter
NM_001166550.4:c.1119_1120del	NP_001160022.1:p.Tyr373Ter