Canonical Allele Identifier: CA2695236564

Gene: IDS

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149501014_149501016delinsAA , CM000685.2:g.149501014_149501016delinsAA	GRCh38
NC_000023.10:g.148582545_148582547delinsAA , CM000685.1:g.148582545_148582547delinsAA	GRCh37
NC_000023.9:g.148390450_148390452delinsAA	NCBI36
NG_011900.3:g.9319_9321delinsTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.440_442delinsTT MANE Select	ENSP00000339801.6:p.Asp147ValfsTer?
ENST00000651111.1:c.-194_-192delinsTT	ENSP00000498395.1:n.-194_-192delinsTT
ENST00000340855.10:c.440_442delinsTT	ENSP00000339801.6:p.Asp147ValfsTer?
ENST00000370441.8:c.440_442delinsTT	ENSP00000359470.4:p.Asp147ValfsTer?
ENST00000422081.6:c.-194_-192delinsTT	ENSP00000477056.1:n.-194_-192delinsTT
ENST00000441880.1:n.114-13918_114-13916delinsTT
ENST00000464251.5:c.366_368delinsTT	ENSP00000428980.1:n.366_368delinsTT
ENST00000466323.5:c.440_442delinsTT	ENSP00000418264.1:p.Asp147ValfsTer?
ENST00000490775.5:n.99_101delinsTT
ENST00000523759.5:n.554_556delinsTT
NM_000202.6:c.440_442delinsTT	NP_000193.1:p.Asp147ValfsTer?
NM_001166550.2:c.170_172delinsTT	NP_001160022.1:p.Asp57ValfsTer?
NM_006123.4:c.440_442delinsTT	NP_006114.1:p.Asp147ValfsTer?
NR_104128.1:n.657_659delinsTT
NM_000202.7:c.440_442delinsTT	NP_000193.1:p.Asp147ValfsTer?
NM_001166550.3:c.170_172delinsTT	NP_001160022.1:p.Asp57ValfsTer?
NM_000202.8:c.440_442delinsTT MANE Select	NP_000193.1:p.Asp147ValfsTer?
NM_001166550.4:c.170_172delinsTT	NP_001160022.1:p.Asp57ValfsTer?
NM_006123.5:c.440_442delinsTT	NP_006114.1:p.Asp147ValfsTer?
NR_104128.2:n.609_611delinsTT