Canonical Allele Identifier: CA2465010026

Gene: IDS

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149500819_149500822delinsCATT , CM000685.2:g.149500819_149500822delinsCATT	GRCh38
NC_000023.10:g.148582350_148582353delinsCATT , CM000685.1:g.148582350_148582353delinsCATT	GRCh37
NC_000023.9:g.148390255_148390258delinsCATT	NCBI36
NG_011900.3:g.9513_9516delinsAATG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.507+127_507+130delinsAATG MANE Select	ENSP00000339801.6:n.507+127_507+130delinsAATG
ENST00000651111.1:c.-127+127_-127+130delinsAATG	ENSP00000498395.1:n.-127+127_-127+130delinsAATG
ENST00000340855.10:c.507+127_507+130delinsAATG	ENSP00000339801.6:n.507+127_507+130delinsAATG
ENST00000370441.8:c.507+127_507+130delinsAATG	ENSP00000359470.4:n.507+127_507+130delinsAATG
ENST00000422081.6:c.-127+127_-127+130delinsAATG	ENSP00000477056.1:n.-127+127_-127+130delinsAATG
ENST00000441880.1:n.114-13724_114-13721delinsAATG
ENST00000464251.5:c.433+127_433+130delinsAATG	ENSP00000428980.1:n.433+127_433+130delinsAATG
ENST00000466323.5:c.507+127_507+130delinsAATG	ENSP00000418264.1:n.507+127_507+130delinsAATG
ENST00000490775.5:n.166+127_166+130delinsAATG
ENST00000523759.5:n.621+127_621+130delinsAATG
NM_000202.6:c.507+127_507+130delinsAATG	NP_000193.1:n.507+127_507+130delinsAATG
NM_001166550.2:c.237+127_237+130delinsAATG	NP_001160022.1:n.237+127_237+130delinsAATG
NM_006123.4:c.507+127_507+130delinsAATG	NP_006114.1:n.507+127_507+130delinsAATG
NR_104128.1:n.724+127_724+130delinsAATG
NM_000202.7:c.507+127_507+130delinsAATG	NP_000193.1:n.507+127_507+130delinsAATG
NM_001166550.3:c.237+127_237+130delinsAATG	NP_001160022.1:n.237+127_237+130delinsAATG
NM_000202.8:c.507+127_507+130delinsAATG MANE Select	NP_000193.1:n.507+127_507+130delinsAATG
NM_001166550.4:c.237+127_237+130delinsAATG	NP_001160022.1:n.237+127_237+130delinsAATG
NM_006123.5:c.507+127_507+130delinsAATG	NP_006114.1:n.507+127_507+130delinsAATG
NR_104128.2:n.676+127_676+130delinsAATG