Canonical Allele Identifier: CA2695236486

Gene: IDS

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149482933_149482945delinsTCCATGATCTTTG , CM000685.2:g.149482933_149482945delinsTCCATGATCTTTG	GRCh38
NC_000023.10:g.148564464_148564476delinsTCCATGATCTTTG , CM000685.1:g.148564464_148564476delinsTCCATGATCTTTG	GRCh37
NC_000023.9:g.148372369_148372381delinsTCCATGATCTTTG	NCBI36
NG_011900.3:g.27390_27402delinsCAAAGATCATGGA

Transcript Alleles

HGVS	Amino-acid change
ENST00000340855.11:c.1454_1466delinsCAAAGATCATGGA MANE Select	ENSP00000339801.6:p.Ile485_Gly489delinsTh...
ENST00000651111.1:c.821_833delinsCAAAGATCATGGA	ENSP00000498395.1:p.Ile274_Gly278delinsTh...
ENST00000340855.10:c.1454_1466delinsCAAAGATCATGGA	ENSP00000339801.6:p.Ile485_Gly489delinsTh...
ENST00000422081.6:c.821_833delinsCAAAGATCATGGA	ENSP00000477056.1:p.Ile274_Gly278delinsTh...
NM_000202.6:c.1454_1466delinsCAAAGATCATGGA	NP_000193.1:p.Ile485_Gly489delinsThrLysIl...
NM_001166550.2:c.1184_1196delinsCAAAGATCATGGA	NP_001160022.1:p.Ile395_Gly399delinsThrLy...
NM_000202.7:c.1454_1466delinsCAAAGATCATGGA	NP_000193.1:p.Ile485_Gly489delinsThrLysIl...
NM_001166550.3:c.1184_1196delinsCAAAGATCATGGA	NP_001160022.1:p.Ile395_Gly399delinsThrLy...
NM_000202.8:c.1454_1466delinsCAAAGATCATGGA MANE Select	NP_000193.1:p.Ile485_Gly489delinsThrLysIl...
NM_001166550.4:c.1184_1196delinsCAAAGATCATGGA	NP_001160022.1:p.Ile395_Gly399delinsThrLy...