Canonical Allele Identifier: CA2694898141

Gene: IDS

Linked Data

• gnomAD v4: X-149498293-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149498295del , CM000685.2:g.149498295del	GRCh38
NC_000023.10:g.148579826del , CM000685.1:g.148579826del	GRCh37
NC_000023.9:g.148387731del	NCBI36
NG_011900.3:g.12041del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.521del MANE Select	ENSP00000339801.6:p.Pro174GlnfsTer?
ENST00000651111.1:c.-113del	ENSP00000498395.1:n.-113del
ENST00000340855.10:c.521del	ENSP00000339801.6:p.Pro174GlnfsTer?
ENST00000370441.8:c.521del	ENSP00000359470.4:p.Pro174GlnfsTer?
ENST00000422081.6:c.-113del	ENSP00000477056.1:n.-113del
ENST00000441880.1:n.114-11196del
ENST00000464251.5:c.447del	ENSP00000428980.1:n.447del
ENST00000466323.5:c.521del	ENSP00000418264.1:p.Pro174GlnfsTer?
ENST00000490775.5:n.306del
ENST00000523759.5:n.635del
NM_000202.6:c.521del	NP_000193.1:p.Pro174GlnfsTer?
NM_001166550.2:c.251del	NP_001160022.1:p.Pro84GlnfsTer?
NM_006123.4:c.521del	NP_006114.1:p.Pro174GlnfsTer?
NR_104128.1:n.738del
NM_000202.7:c.521del	NP_000193.1:p.Pro174GlnfsTer?
NM_001166550.3:c.251del	NP_001160022.1:p.Pro84GlnfsTer?
NM_000202.8:c.521del MANE Select	NP_000193.1:p.Pro174GlnfsTer?
NM_001166550.4:c.251del	NP_001160022.1:p.Pro84GlnfsTer?
NM_006123.5:c.521del	NP_006114.1:p.Pro174GlnfsTer?
NR_104128.2:n.690del