Canonical Allele Identifier: CA2694908955
Gene: IDS HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.149482864_149482874del , CM000685.2:g.149482864_149482874del GRCh38
NC_000023.10:g.148564395_148564405del , CM000685.1:g.148564395_148564405del GRCh37
NC_000023.9:g.148372300_148372310del NCBI36
NG_011900.3:g.27461_27471del

Transcript Alleles

HGVS Amino-acid Change
ENST00000340855.11:c.1525_1535del MANE Select ENSP00000339801.6:p.Glu509Ter
ENST00000651111.1:c.892_902del ENSP00000498395.1:p.Glu298Ter
ENST00000340855.10:c.1525_1535del ENSP00000339801.6:p.Glu509Ter
ENST00000422081.6:c.892_902del ENSP00000477056.1:p.Glu298Ter
NM_000202.6:c.1525_1535del NP_000193.1:p.Glu509Ter
NM_001166550.2:c.1255_1265del NP_001160022.1:p.Glu419Ter
NM_000202.7:c.1525_1535del NP_000193.1:p.Glu509Ter
NM_001166550.3:c.1255_1265del NP_001160022.1:p.Glu419Ter
NM_000202.8:c.1525_1535del MANE Select NP_000193.1:p.Glu509Ter
NM_001166550.4:c.1255_1265del NP_001160022.1:p.Glu419Ter