Canonical Allele Identifier: CA2695236580

Gene: IDS

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149503337_149503338dup , CM000685.2:g.149503337_149503338dup	GRCh38
NC_000023.10:g.148584867_148584868dup , CM000685.1:g.148584867_148584868dup	GRCh37
NC_000023.9:g.148392772_148392773dup	NCBI36
NG_011900.3:g.6998_6999dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.393_394dup MANE Select	ENSP00000339801.6:p.Ser132CysfsTer?
ENST00000651111.1:c.-215-2300_-215-2299dup	ENSP00000498395.1:n.-215-2300_-215-2299dup
ENST00000340855.10:c.393_394dup	ENSP00000339801.6:p.Ser132CysfsTer?
ENST00000370441.8:c.393_394dup	ENSP00000359470.4:p.Ser132CysfsTer?
ENST00000422081.6:c.-215-2300_-215-2299dup	ENSP00000477056.1:n.-215-2300_-215-2299dup
ENST00000427113.2:n.770-1114_770-1113dup
ENST00000428056.6:c.393_394dup	ENSP00000390241.2:p.Ser132CysfsTer?
ENST00000441880.1:n.114-16239_114-16238dup
ENST00000464251.5:c.216_217dup	ENSP00000428980.1:p.Ser73CysfsTer?
ENST00000466323.5:c.393_394dup	ENSP00000418264.1:p.Ser132CysfsTer?
ENST00000490775.5:n.52_53dup
ENST00000523759.5:n.533-2300_533-2299dup
NM_000202.6:c.393_394dup	NP_000193.1:p.Ser132CysfsTer?
NM_001166550.2:c.123_124dup	NP_001160022.1:p.Ser42CysfsTer?
NM_006123.4:c.393_394dup	NP_006114.1:p.Ser132CysfsTer?
NR_104128.1:n.610_611dup
NM_000202.7:c.393_394dup	NP_000193.1:p.Ser132CysfsTer?
NM_001166550.3:c.123_124dup	NP_001160022.1:p.Ser42CysfsTer?
NM_000202.8:c.393_394dup MANE Select	NP_000193.1:p.Ser132CysfsTer?
NM_001166550.4:c.123_124dup	NP_001160022.1:p.Ser42CysfsTer?
NM_006123.5:c.393_394dup	NP_006114.1:p.Ser132CysfsTer?
NR_104128.2:n.562_563dup