Canonical Allele Identifier: CA1138320219

Gene: IDS

Linked Data

• gnomAD v3: X-149490738-T-TGAAAACAACA
• gnomAD v4: X-149490738-T-TGAAAACAACA

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149490742_149490743insACAACAGAAA , CM000685.2:g.149490742_149490743insACAACAGAAA	GRCh38
NC_000023.10:g.148572273_148572274insACAACAGAAA , CM000685.1:g.148572273_148572274insACAACAGAAA	GRCh37
NC_000023.9:g.148380178_148380179insACAACAGAAA	NCBI36
NG_011900.3:g.19596_19597insTGTTGTTTTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.880-299_880-298insTGTTGTTTTC MANE Select	ENSP00000339801.6:n.880-299_880-298insTGTTGTTTTC
ENST00000651111.1:c.247-299_247-298insTGTTGTTTTC	ENSP00000498395.1:n.247-299_247-298insTGTTGTTTTC
ENST00000340855.10:c.880-299_880-298insTGTTGTTTTC	ENSP00000339801.6:n.880-299_880-298insTGTTGTTTTC
ENST00000370441.8:c.880-299_880-298insTGTTGTTTTC	ENSP00000359470.4:n.880-299_880-298insTGTTGTTTTC
ENST00000422081.6:c.247-299_247-298insTGTTGTTTTC	ENSP00000477056.1:n.247-299_247-298insTGTTGTTTTC
ENST00000441880.1:n.114-3641_114-3640insTGTTGTTTTC
ENST00000464251.5:c.806-299_806-298insTGTTGTTTTC	ENSP00000428980.1:n.806-299_806-298insTGTTGTTTTC
ENST00000466323.5:c.*71-299_*71-298insTGTTGTTTTC	ENSP00000418264.1:n.*71-299_*71-298insTGTTGTTTTC
ENST00000490775.5:n.665-299_665-298insTGTTGTTTTC
NM_000202.6:c.880-299_880-298insTGTTGTTTTC	NP_000193.1:n.880-299_880-298insTGTTGTTTTC
NM_001166550.2:c.610-299_610-298insTGTTGTTTTC	NP_001160022.1:n.610-299_610-298insTGTTGTTTTC
NM_006123.4:c.880-299_880-298insTGTTGTTTTC	NP_006114.1:n.880-299_880-298insTGTTGTTTTC
NR_104128.1:n.1227-299_1227-298insTGTTGTTTTC
NM_000202.7:c.880-299_880-298insTGTTGTTTTC	NP_000193.1:n.880-299_880-298insTGTTGTTTTC
NM_001166550.3:c.610-299_610-298insTGTTGTTTTC	NP_001160022.1:n.610-299_610-298insTGTTGTTTTC
NM_000202.8:c.880-299_880-298insTGTTGTTTTC MANE Select	NP_000193.1:n.880-299_880-298insTGTTGTTTTC
NM_001166550.4:c.610-299_610-298insTGTTGTTTTC	NP_001160022.1:n.610-299_610-298insTGTTGTTTTC
NM_006123.5:c.880-299_880-298insTGTTGTTTTC	NP_006114.1:n.880-299_880-298insTGTTGTTTTC
NR_104128.2:n.1179-299_1179-298insTGTTGTTTTC