Canonical Allele Identifier: CA2465003982

Gene: IDS

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149482935_149482936delinsCA , CM000685.2:g.149482935_149482936delinsCA	GRCh38
NC_000023.10:g.148564466_148564467delinsCA , CM000685.1:g.148564466_148564467delinsCA	GRCh37
NC_000023.9:g.148372371_148372372delinsCA	NCBI36
NG_011900.3:g.27399_27400delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.1463_1464delinsTG MANE Select	ENSP00000339801.6:p.Met488=
ENST00000651111.1:c.830_831delinsTG	ENSP00000498395.1:p.Met277=
ENST00000340855.10:c.1463_1464delinsTG	ENSP00000339801.6:p.Met488=
ENST00000422081.6:c.830_831delinsTG	ENSP00000477056.1:p.Met277=
NM_000202.6:c.1463_1464delinsTG	NP_000193.1:p.Met488=
NM_001166550.2:c.1193_1194delinsTG	NP_001160022.1:p.Met398=
NM_000202.7:c.1463_1464delinsTG	NP_000193.1:p.Met488=
NM_001166550.3:c.1193_1194delinsTG	NP_001160022.1:p.Met398=
NM_000202.8:c.1463_1464delinsTG MANE Select	NP_000193.1:p.Met488=
NM_001166550.4:c.1193_1194delinsTG	NP_001160022.1:p.Met398=