Canonical Allele Identifier: CA2695236494

Gene: IDS

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149482989_149482990del , CM000685.2:g.149482989_149482990del	GRCh38
NC_000023.10:g.148564520_148564521del , CM000685.1:g.148564520_148564521del	GRCh37
NC_000023.9:g.148372425_148372426del	NCBI36
NG_011900.3:g.27345_27346del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.1409_1410del MANE Select	ENSP00000339801.6:p.Ser470Ter
ENST00000651111.1:c.776_777del	ENSP00000498395.1:p.Ser259Ter
ENST00000340855.10:c.1409_1410del	ENSP00000339801.6:p.Ser470Ter
ENST00000422081.6:c.776_777del	ENSP00000477056.1:p.Ser259Ter
NM_000202.6:c.1409_1410del	NP_000193.1:p.Ser470Ter
NM_001166550.2:c.1139_1140del	NP_001160022.1:p.Ser380Ter
NM_000202.7:c.1409_1410del	NP_000193.1:p.Ser470Ter
NM_001166550.3:c.1139_1140del	NP_001160022.1:p.Ser380Ter
NM_000202.8:c.1409_1410del MANE Select	NP_000193.1:p.Ser470Ter
NM_001166550.4:c.1139_1140del	NP_001160022.1:p.Ser380Ter