Canonical Allele Identifier: CA2465010866

Gene: IDS

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149503378_149503381delinsTGGA , CM000685.2:g.149503378_149503381delinsTGGA	GRCh38
NC_000023.10:g.148584908_148584911delinsTGGA , CM000685.1:g.148584908_148584911delinsTGGA	GRCh37
NC_000023.9:g.148392813_148392816delinsTGGA	NCBI36
NG_011900.3:g.6954_6957delinsTCCA

Transcript Alleles

HGVS	Amino-acid change
ENST00000340855.11:c.349_352delinsTCCA MANE Select	ENSP00000339801.6:p.Ser117=
ENST00000651111.1:c.-215-2344_-215-2341delinsTCCA	ENSP00000498395.1:n.-215-2344_-215-2341de...
ENST00000340855.10:c.349_352delinsTCCA	ENSP00000339801.6:p.Ser117=
ENST00000370441.8:c.349_352delinsTCCA	ENSP00000359470.4:p.Ser117=
ENST00000422081.6:c.-215-2344_-215-2341delinsTCCA	ENSP00000477056.1:n.-215-2344_-215-2341de...
ENST00000427113.2:n.770-1158_770-1155delinsTCCA
ENST00000428056.6:c.349_352delinsTCCA	ENSP00000390241.2:p.Ser117=
ENST00000441880.1:n.114-16283_114-16280delinsTCCA
ENST00000464251.5:c.172_175delinsTCCA	ENSP00000428980.1:p.Ser58=
ENST00000466323.5:c.349_352delinsTCCA	ENSP00000418264.1:p.Ser117=
ENST00000490775.5:n.8_11delinsTCCA
ENST00000523759.5:n.533-2344_533-2341delinsTCCA
NM_000202.6:c.349_352delinsTCCA	NP_000193.1:p.Ser117=
NM_001166550.2:c.79_82delinsTCCA	NP_001160022.1:p.Ser27=
NM_006123.4:c.349_352delinsTCCA	NP_006114.1:p.Ser117=
NR_104128.1:n.566_569delinsTCCA
NM_000202.7:c.349_352delinsTCCA	NP_000193.1:p.Ser117=
NM_001166550.3:c.79_82delinsTCCA	NP_001160022.1:p.Ser27=
NM_000202.8:c.349_352delinsTCCA MANE Select	NP_000193.1:p.Ser117=
NM_001166550.4:c.79_82delinsTCCA	NP_001160022.1:p.Ser27=
NM_006123.5:c.349_352delinsTCCA	NP_006114.1:p.Ser117=
NR_104128.2:n.518_521delinsTCCA