Canonical Allele Identifier: CA2511282242

Gene: IDS

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149483062_149483084del , CM000685.2:g.149483062_149483084del	GRCh38
NC_000023.10:g.148564593_148564615del , CM000685.1:g.148564593_148564615del	GRCh37
NC_000023.9:g.148372498_148372520del	NCBI36
NG_011900.3:g.27253_27275del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.1317_1339del MANE Select	ENSP00000339801.6:p.Lys440GlyfsTer9
ENST00000651111.1:c.684_706del	ENSP00000498395.1:p.Lys229GlyfsTer9
ENST00000340855.10:c.1317_1339del	ENSP00000339801.6:p.Lys440GlyfsTer9
ENST00000422081.6:c.684_706del	ENSP00000477056.1:p.Lys229GlyfsTer9
NM_000202.6:c.1317_1339del	NP_000193.1:p.Lys440GlyfsTer9
NM_001166550.2:c.1047_1069del	NP_001160022.1:p.Lys350GlyfsTer9
NM_000202.7:c.1317_1339del	NP_000193.1:p.Lys440GlyfsTer9
NM_001166550.3:c.1047_1069del	NP_001160022.1:p.Lys350GlyfsTer9
NM_000202.8:c.1317_1339del MANE Select	NP_000193.1:p.Lys440GlyfsTer9
NM_001166550.4:c.1047_1069del	NP_001160022.1:p.Lys350GlyfsTer9