Canonical Allele Identifier: CA2695236584

Gene: IDS

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149503374_149503377dup , CM000685.2:g.149503374_149503377dup	GRCh38
NC_000023.10:g.148584904_148584907dup , CM000685.1:g.148584904_148584907dup	GRCh37
NC_000023.9:g.148392809_148392812dup	NCBI36
NG_011900.3:g.6960_6963dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.355_358dup MANE Select	ENSP00000339801.6:p.Pro120HisfsTer26
ENST00000651111.1:c.-215-2338_-215-2335dup	ENSP00000498395.1:n.-215-2338_-215-2335dup
ENST00000340855.10:c.355_358dup	ENSP00000339801.6:p.Pro120HisfsTer26
ENST00000370441.8:c.355_358dup	ENSP00000359470.4:p.Pro120HisfsTer26
ENST00000422081.6:c.-215-2338_-215-2335dup	ENSP00000477056.1:n.-215-2338_-215-2335dup
ENST00000427113.2:n.770-1152_770-1149dup
ENST00000428056.6:c.355_358dup	ENSP00000390241.2:p.Pro120HisfsTer?
ENST00000441880.1:n.114-16277_114-16274dup
ENST00000464251.5:c.178_181dup	ENSP00000428980.1:p.Pro61HisfsTer31
ENST00000466323.5:c.355_358dup	ENSP00000418264.1:p.Pro120HisfsTer26
ENST00000490775.5:n.14_17dup
ENST00000523759.5:n.533-2338_533-2335dup
NM_000202.6:c.355_358dup	NP_000193.1:p.Pro120HisfsTer26
NM_001166550.2:c.85_88dup	NP_001160022.1:p.Pro30HisfsTer26
NM_006123.4:c.355_358dup	NP_006114.1:p.Pro120HisfsTer26
NR_104128.1:n.572_575dup
NM_000202.7:c.355_358dup	NP_000193.1:p.Pro120HisfsTer26
NM_001166550.3:c.85_88dup	NP_001160022.1:p.Pro30HisfsTer26
NM_000202.8:c.355_358dup MANE Select	NP_000193.1:p.Pro120HisfsTer26
NM_001166550.4:c.85_88dup	NP_001160022.1:p.Pro30HisfsTer26
NM_006123.5:c.355_358dup	NP_006114.1:p.Pro120HisfsTer26
NR_104128.2:n.524_527dup