Canonical Allele Identifier: CA2695236485
Gene: IDS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.149482914_149482915insTA , CM000685.2:g.149482914_149482915insTA GRCh38
NC_000023.10:g.148564445_148564446insTA , CM000685.1:g.148564445_148564446insTA GRCh37
NC_000023.9:g.148372350_148372351insTA NCBI36
NG_011900.3:g.27420_27421insTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000340855.11:c.1484_1485insTA MANE Select ENSP00000339801.6:p.Asp496LysfsTer17
ENST00000651111.1:c.851_852insTA ENSP00000498395.1:p.Asp285LysfsTer17
ENST00000340855.10:c.1484_1485insTA ENSP00000339801.6:p.Asp496LysfsTer17
ENST00000422081.6:c.851_852insTA ENSP00000477056.1:p.Asp285LysfsTer17
NM_000202.6:c.1484_1485insTA NP_000193.1:p.Asp496LysfsTer17
NM_001166550.2:c.1214_1215insTA NP_001160022.1:p.Asp406LysfsTer17
NM_000202.7:c.1484_1485insTA NP_000193.1:p.Asp496LysfsTer17
NM_001166550.3:c.1214_1215insTA NP_001160022.1:p.Asp406LysfsTer17
NM_000202.8:c.1484_1485insTA MANE Select NP_000193.1:p.Asp496LysfsTer17
NM_001166550.4:c.1214_1215insTA NP_001160022.1:p.Asp406LysfsTer17