Canonical Allele Identifier: CA2695236499

Gene: IDS

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149483004_149483012del , CM000685.2:g.149483004_149483012del	GRCh38
NC_000023.10:g.148564535_148564543del , CM000685.1:g.148564535_148564543del	GRCh37
NC_000023.9:g.148372440_148372448del	NCBI36
NG_011900.3:g.27326_27334del

Transcript Alleles

HGVS	Amino-acid change
ENST00000340855.11:c.1390_1398del MANE Select	ENSP00000339801.6:p.Ser464_Tyr466del
ENST00000651111.1:c.757_765del	ENSP00000498395.1:p.Ser253_Tyr255del
ENST00000340855.10:c.1390_1398del	ENSP00000339801.6:p.Ser464_Tyr466del
ENST00000422081.6:c.757_765del	ENSP00000477056.1:p.Ser253_Tyr255del
NM_000202.6:c.1390_1398del	NP_000193.1:p.Ser464_Tyr466del
NM_001166550.2:c.1120_1128del	NP_001160022.1:p.Ser374_Tyr376del
NM_000202.7:c.1390_1398del	NP_000193.1:p.Ser464_Tyr466del
NM_001166550.3:c.1120_1128del	NP_001160022.1:p.Ser374_Tyr376del
NM_000202.8:c.1390_1398del MANE Select	NP_000193.1:p.Ser464_Tyr466del
NM_001166550.4:c.1120_1128del	NP_001160022.1:p.Ser374_Tyr376del