Canonical Allele Identifier: CA2694899070

Gene: IDS

Linked Data

• gnomAD v4: X-149503077-ACAGCACAC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149503079_149503086del , CM000685.2:g.149503079_149503086del	GRCh38
NC_000023.10:g.148584609_148584616del , CM000685.1:g.148584609_148584616del	GRCh37
NC_000023.9:g.148392514_148392521del	NCBI36
NG_011900.3:g.7250_7257del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.418+227_418+234del MANE Select	ENSP00000339801.6:n.418+227_418+234del
ENST00000651111.1:c.-215-2048_-215-2041del	ENSP00000498395.1:n.-215-2048_-215-2041del
ENST00000340855.10:c.418+227_418+234del	ENSP00000339801.6:n.418+227_418+234del
ENST00000370441.8:c.418+227_418+234del	ENSP00000359470.4:n.418+227_418+234del
ENST00000422081.6:c.-215-2048_-215-2041del	ENSP00000477056.1:n.-215-2048_-215-2041del
ENST00000427113.2:n.770-862_770-855del
ENST00000428056.6:c.*105_*112del	ENSP00000390241.2:n.*105_*112del
ENST00000441880.1:n.114-15987_114-15980del
ENST00000464251.5:c.241+227_241+234del	ENSP00000428980.1:n.241+227_241+234del
ENST00000466323.5:c.418+227_418+234del	ENSP00000418264.1:n.418+227_418+234del
ENST00000490775.5:n.77+227_77+234del
ENST00000523759.5:n.533-2048_533-2041del
NM_000202.6:c.418+227_418+234del	NP_000193.1:n.418+227_418+234del
NM_001166550.2:c.148+227_148+234del	NP_001160022.1:n.148+227_148+234del
NM_006123.4:c.418+227_418+234del	NP_006114.1:n.418+227_418+234del
NR_104128.1:n.635+227_635+234del
NM_000202.7:c.418+227_418+234del	NP_000193.1:n.418+227_418+234del
NM_001166550.3:c.148+227_148+234del	NP_001160022.1:n.148+227_148+234del
NM_000202.8:c.418+227_418+234del MANE Select	NP_000193.1:n.418+227_418+234del
NM_001166550.4:c.148+227_148+234del	NP_001160022.1:n.148+227_148+234del
NM_006123.5:c.418+227_418+234del	NP_006114.1:n.418+227_418+234del
NR_104128.2:n.587+227_587+234del