Canonical Allele Identifier: CA2695236583

Gene: IDS

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149503361_149503377del , CM000685.2:g.149503361_149503377del	GRCh38
NC_000023.10:g.148584891_148584907del , CM000685.1:g.148584891_148584907del	GRCh37
NC_000023.9:g.148392796_148392812del	NCBI36
NG_011900.3:g.6958_6974del

Transcript Alleles

HGVS	Amino-acid change
ENST00000340855.11:c.353_369del MANE Select	ENSP00000339801.6:p.Thr118LysfsTer21
ENST00000651111.1:c.-215-2340_-215-2324del	ENSP00000498395.1:n.-215-2340_-215-2324de...
ENST00000340855.10:c.353_369del	ENSP00000339801.6:p.Thr118LysfsTer21
ENST00000370441.8:c.353_369del	ENSP00000359470.4:p.Thr118LysfsTer21
ENST00000422081.6:c.-215-2340_-215-2324del	ENSP00000477056.1:n.-215-2340_-215-2324de...
ENST00000427113.2:n.770-1154_770-1138del
ENST00000428056.6:c.353_369del	ENSP00000390241.2:p.Thr118LysfsTer?
ENST00000441880.1:n.114-16279_114-16263del
ENST00000464251.5:c.176_192del	ENSP00000428980.1:p.Thr59LysfsTer26
ENST00000466323.5:c.353_369del	ENSP00000418264.1:p.Thr118LysfsTer21
ENST00000490775.5:n.12_28del
ENST00000523759.5:n.533-2340_533-2324del
NM_000202.6:c.353_369del	NP_000193.1:p.Thr118LysfsTer21
NM_001166550.2:c.83_99del	NP_001160022.1:p.Thr28LysfsTer21
NM_006123.4:c.353_369del	NP_006114.1:p.Thr118LysfsTer21
NR_104128.1:n.570_586del
NM_000202.7:c.353_369del	NP_000193.1:p.Thr118LysfsTer21
NM_001166550.3:c.83_99del	NP_001160022.1:p.Thr28LysfsTer21
NM_000202.8:c.353_369del MANE Select	NP_000193.1:p.Thr118LysfsTer21
NM_001166550.4:c.83_99del	NP_001160022.1:p.Thr28LysfsTer21
NM_006123.5:c.353_369del	NP_006114.1:p.Thr118LysfsTer21
NR_104128.2:n.522_538del