Canonical Allele Identifier: CA2824136439
Gene: IDS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.149498321_149498322insCC , CM000685.2:g.149498321_149498322insCC GRCh38
NC_000023.10:g.148579852_148579853insCC , CM000685.1:g.148579852_148579853insCC GRCh37
NC_000023.9:g.148387757_148387758insCC NCBI36
NG_011900.3:g.12013_12014insGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000340855.11:c.508-15_508-14insGG MANE Select ENSP00000339801.6:n.508-15_508-14insGG
ENST00000651111.1:c.-126-15_-126-14insGG ENSP00000498395.1:n.-126-15_-126-14insGG
ENST00000340855.10:c.508-15_508-14insGG ENSP00000339801.6:n.508-15_508-14insGG
ENST00000370441.8:c.508-15_508-14insGG ENSP00000359470.4:n.508-15_508-14insGG
ENST00000422081.6:c.-126-15_-126-14insGG ENSP00000477056.1:n.-126-15_-126-14insGG
ENST00000441880.1:n.114-11224_114-11223insGG
ENST00000464251.5:c.434-15_434-14insGG ENSP00000428980.1:n.434-15_434-14insGG
ENST00000466323.5:c.508-15_508-14insGG ENSP00000418264.1:n.508-15_508-14insGG
ENST00000490775.5:n.293-15_293-14insGG
ENST00000523759.5:n.622-15_622-14insGG
NM_000202.6:c.508-15_508-14insGG NP_000193.1:n.508-15_508-14insGG
NM_001166550.2:c.238-15_238-14insGG NP_001160022.1:n.238-15_238-14insGG
NM_006123.4:c.508-15_508-14insGG NP_006114.1:n.508-15_508-14insGG
NR_104128.1:n.725-15_725-14insGG
NM_000202.7:c.508-15_508-14insGG NP_000193.1:n.508-15_508-14insGG
NM_001166550.3:c.238-15_238-14insGG NP_001160022.1:n.238-15_238-14insGG
NM_000202.8:c.508-15_508-14insGG MANE Select NP_000193.1:n.508-15_508-14insGG
NM_001166550.4:c.238-15_238-14insGG NP_001160022.1:n.238-15_238-14insGG
NM_006123.5:c.508-15_508-14insGG NP_006114.1:n.508-15_508-14insGG
NR_104128.2:n.677-15_677-14insGG