Canonical Allele Identifier: CA2465004027
Gene: IDS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.149483041_149483046delinsAGGTAC , CM000685.2:g.149483041_149483046delinsAGGTAC GRCh38
NC_000023.10:g.148564572_148564577delinsAGGTAC , CM000685.1:g.148564572_148564577delinsAGGTAC GRCh37
NC_000023.9:g.148372477_148372482delinsAGGTAC NCBI36
NG_011900.3:g.27289_27294delinsGTACCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000340855.11:c.1353_1358delinsGTACCT MANE Select ENSP00000339801.6:p.Pro451=
ENST00000651111.1:c.720_725delinsGTACCT ENSP00000498395.1:p.Pro240=
ENST00000340855.10:c.1353_1358delinsGTACCT ENSP00000339801.6:p.Pro451=
ENST00000422081.6:c.720_725delinsGTACCT ENSP00000477056.1:p.Pro240=
NM_000202.6:c.1353_1358delinsGTACCT NP_000193.1:p.Pro451=
NM_001166550.2:c.1083_1088delinsGTACCT NP_001160022.1:p.Pro361=
NM_000202.7:c.1353_1358delinsGTACCT NP_000193.1:p.Pro451=
NM_001166550.3:c.1083_1088delinsGTACCT NP_001160022.1:p.Pro361=
NM_000202.8:c.1353_1358delinsGTACCT MANE Select NP_000193.1:p.Pro451=
NM_001166550.4:c.1083_1088delinsGTACCT NP_001160022.1:p.Pro361=