Canonical Allele Identifier: CA2695236536
Gene: IDS HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.149487072_149487075dup , CM000685.2:g.149487072_149487075dup GRCh38
NC_000023.10:g.148568603_148568606dup , CM000685.1:g.148568603_148568606dup GRCh37
NC_000023.9:g.148376508_148376511dup NCBI36
NG_011900.3:g.23261_23264dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000340855.11:c.1031_1034dup MANE Select ENSP00000339801.6:p.Trp345Ter
ENST00000651111.1:c.398_401dup ENSP00000498395.1:p.Trp134Ter
ENST00000340855.10:c.1031_1034dup ENSP00000339801.6:p.Trp345Ter
ENST00000422081.6:c.398_401dup ENSP00000477056.1:p.Trp134Ter
ENST00000441880.1:n.138_141dup
NM_000202.6:c.1031_1034dup NP_000193.1:p.Trp345Ter
NM_001166550.2:c.761_764dup NP_001160022.1:p.Trp255Ter
NM_000202.7:c.1031_1034dup NP_000193.1:p.Trp345Ter
NM_001166550.3:c.761_764dup NP_001160022.1:p.Trp255Ter
NM_000202.8:c.1031_1034dup MANE Select NP_000193.1:p.Trp345Ter
NM_001166550.4:c.761_764dup NP_001160022.1:p.Trp255Ter
Search 100 bp 5'
Search 100 bp 3'