Canonical Allele Identifier: CA2739289619

Gene: IDS

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149486963_149486964del , CM000685.2:g.149486963_149486964del	GRCh38
NC_000023.10:g.148568494_148568495del , CM000685.1:g.148568494_148568495del	GRCh37
NC_000023.9:g.148376399_148376400del	NCBI36
NG_011900.3:g.23372_23373del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.1142_1143del MANE Select	ENSP00000339801.6:p.Leu381ArgfsTer4
ENST00000651111.1:c.509_510del	ENSP00000498395.1:p.Leu170ArgfsTer4
ENST00000340855.10:c.1142_1143del	ENSP00000339801.6:p.Leu381ArgfsTer4
ENST00000422081.6:c.509_510del	ENSP00000477056.1:p.Leu170ArgfsTer4
ENST00000441880.1:n.249_250del
NM_000202.6:c.1142_1143del	NP_000193.1:p.Leu381ArgfsTer4
NM_001166550.2:c.872_873del	NP_001160022.1:p.Leu291ArgfsTer4
NM_000202.7:c.1142_1143del	NP_000193.1:p.Leu381ArgfsTer4
NM_001166550.3:c.872_873del	NP_001160022.1:p.Leu291ArgfsTer4
NM_000202.8:c.1142_1143del MANE Select	NP_000193.1:p.Leu381ArgfsTer4
NM_001166550.4:c.872_873del	NP_001160022.1:p.Leu291ArgfsTer4