Canonical Allele Identifier: CA2465010877
Gene: IDS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.149503424_149503425delinsCA , CM000685.2:g.149503424_149503425delinsCA GRCh38
NC_000023.10:g.148584954_148584955delinsCA , CM000685.1:g.148584954_148584955delinsCA GRCh37
NC_000023.9:g.148392859_148392860delinsCA NCBI36
NG_011900.3:g.6910_6911delinsTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000340855.11:c.305_306delinsTG MANE Select ENSP00000339801.6:p.Leu102=
ENST00000651111.1:c.-215-2388_-215-2387delinsTG ENSP00000498395.1:n.-215-2388_-215-2387delinsTG
ENST00000340855.10:c.305_306delinsTG ENSP00000339801.6:p.Leu102=
ENST00000370441.8:c.305_306delinsTG ENSP00000359470.4:p.Leu102=
ENST00000422081.6:c.-215-2388_-215-2387delinsTG ENSP00000477056.1:n.-215-2388_-215-2387delinsTG
ENST00000427113.2:n.770-1202_770-1201delinsTG
ENST00000428056.6:c.305_306delinsTG ENSP00000390241.2:p.Leu102=
ENST00000441880.1:n.114-16327_114-16326delinsTG
ENST00000464251.5:c.128_129delinsTG ENSP00000428980.1:p.Leu43=
ENST00000466323.5:c.305_306delinsTG ENSP00000418264.1:p.Leu102=
ENST00000523759.5:n.533-2388_533-2387delinsTG
NM_000202.6:c.305_306delinsTG NP_000193.1:p.Leu102=
NM_001166550.2:c.35_36delinsTG NP_001160022.1:p.Leu12=
NM_006123.4:c.305_306delinsTG NP_006114.1:p.Leu102=
NR_104128.1:n.522_523delinsTG
NM_000202.7:c.305_306delinsTG NP_000193.1:p.Leu102=
NM_001166550.3:c.35_36delinsTG NP_001160022.1:p.Leu12=
NM_000202.8:c.305_306delinsTG MANE Select NP_000193.1:p.Leu102=
NM_001166550.4:c.35_36delinsTG NP_001160022.1:p.Leu12=
NM_006123.5:c.305_306delinsTG NP_006114.1:p.Leu102=
NR_104128.2:n.474_475delinsTG