Canonical Allele Identifier: CA2695236610

Gene: IDS

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149503473_149503476del , CM000685.2:g.149503473_149503476del	GRCh38
NC_000023.10:g.148585003_148585006del , CM000685.1:g.148585003_148585006del	GRCh37
NC_000023.9:g.148392908_148392911del	NCBI36
NG_011900.3:g.6859_6862del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.254_257del MANE Select	ENSP00000339801.6:p.Ala85GlyfsTer?
ENST00000651111.1:c.-215-2439_-215-2436del	ENSP00000498395.1:n.-215-2439_-215-2436del
ENST00000340855.10:c.254_257del	ENSP00000339801.6:p.Ala85GlyfsTer?
ENST00000370441.8:c.254_257del	ENSP00000359470.4:p.Ala85GlyfsTer?
ENST00000422081.6:c.-215-2439_-215-2436del	ENSP00000477056.1:n.-215-2439_-215-2436del
ENST00000427113.2:n.770-1253_770-1250del
ENST00000428056.6:c.254_257del	ENSP00000390241.2:p.Ala85GlyfsTer?
ENST00000441880.1:n.114-16378_114-16375del
ENST00000464251.5:c.77_80del	ENSP00000428980.1:p.Ala26GlyfsTer?
ENST00000466323.5:c.254_257del	ENSP00000418264.1:p.Ala85GlyfsTer?
ENST00000521702.1:c.254_257del	ENSP00000429745.1:p.Ala85GlyfsTer?
ENST00000523759.5:n.533-2439_533-2436del
NM_000202.6:c.254_257del	NP_000193.1:p.Ala85GlyfsTer?
NM_001166550.2:c.15-31_15-28del	NP_001160022.1:n.15-31_15-28del
NM_006123.4:c.254_257del	NP_006114.1:p.Ala85GlyfsTer?
NR_104128.1:n.471_474del
NM_000202.7:c.254_257del	NP_000193.1:p.Ala85GlyfsTer?
NM_001166550.3:c.15-31_15-28del	NP_001160022.1:n.15-31_15-28del
NM_000202.8:c.254_257del MANE Select	NP_000193.1:p.Ala85GlyfsTer?
NM_001166550.4:c.15-31_15-28del	NP_001160022.1:n.15-31_15-28del
NM_006123.5:c.254_257del	NP_006114.1:p.Ala85GlyfsTer?
NR_104128.2:n.423_426del