Canonical Allele Identifier: CA2694899066

Gene: IDS

Linked Data

• gnomAD v4: X-149503071-GACCCAACAGCAC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149503076_149503087del , CM000685.2:g.149503076_149503087del	GRCh38
NC_000023.10:g.148584606_148584617del , CM000685.1:g.148584606_148584617del	GRCh37
NC_000023.9:g.148392511_148392522del	NCBI36
NG_011900.3:g.7252_7263del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.418+229_418+240del MANE Select	ENSP00000339801.6:n.418+229_418+240del
ENST00000651111.1:c.-215-2046_-215-2035del	ENSP00000498395.1:n.-215-2046_-215-2035del
ENST00000340855.10:c.418+229_418+240del	ENSP00000339801.6:n.418+229_418+240del
ENST00000370441.8:c.418+229_418+240del	ENSP00000359470.4:n.418+229_418+240del
ENST00000422081.6:c.-215-2046_-215-2035del	ENSP00000477056.1:n.-215-2046_-215-2035del
ENST00000427113.2:n.770-860_770-849del
ENST00000428056.6:c.*107_*118del	ENSP00000390241.2:n.*107_*118del
ENST00000441880.1:n.114-15985_114-15974del
ENST00000464251.5:c.241+229_241+240del	ENSP00000428980.1:n.241+229_241+240del
ENST00000466323.5:c.418+229_418+240del	ENSP00000418264.1:n.418+229_418+240del
ENST00000490775.5:n.77+229_77+240del
ENST00000523759.5:n.533-2046_533-2035del
NM_000202.6:c.418+229_418+240del	NP_000193.1:n.418+229_418+240del
NM_001166550.2:c.148+229_148+240del	NP_001160022.1:n.148+229_148+240del
NM_006123.4:c.418+229_418+240del	NP_006114.1:n.418+229_418+240del
NR_104128.1:n.635+229_635+240del
NM_000202.7:c.418+229_418+240del	NP_000193.1:n.418+229_418+240del
NM_001166550.3:c.148+229_148+240del	NP_001160022.1:n.148+229_148+240del
NM_000202.8:c.418+229_418+240del MANE Select	NP_000193.1:n.418+229_418+240del
NM_001166550.4:c.148+229_148+240del	NP_001160022.1:n.148+229_148+240del
NM_006123.5:c.418+229_418+240del	NP_006114.1:n.418+229_418+240del
NR_104128.2:n.587+229_587+240del