Canonical Allele Identifier: CA2465003988

Gene: IDS

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149482956_149482961delinsACTCGG , CM000685.2:g.149482956_149482961delinsACTCGG	GRCh38
NC_000023.10:g.148564487_148564492delinsACTCGG , CM000685.1:g.148564487_148564492delinsACTCGG	GRCh37
NC_000023.9:g.148372392_148372397delinsACTCGG	NCBI36
NG_011900.3:g.27374_27379delinsCCGAGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.1438_1443delinsCCGAGT MANE Select	ENSP00000339801.6:p.Pro480=
ENST00000651111.1:c.805_810delinsCCGAGT	ENSP00000498395.1:p.Pro269=
ENST00000340855.10:c.1438_1443delinsCCGAGT	ENSP00000339801.6:p.Pro480=
ENST00000422081.6:c.805_810delinsCCGAGT	ENSP00000477056.1:p.Pro269=
NM_000202.6:c.1438_1443delinsCCGAGT	NP_000193.1:p.Pro480=
NM_001166550.2:c.1168_1173delinsCCGAGT	NP_001160022.1:p.Pro390=
NM_000202.7:c.1438_1443delinsCCGAGT	NP_000193.1:p.Pro480=
NM_001166550.3:c.1168_1173delinsCCGAGT	NP_001160022.1:p.Pro390=
NM_000202.8:c.1438_1443delinsCCGAGT MANE Select	NP_000193.1:p.Pro480=
NM_001166550.4:c.1168_1173delinsCCGAGT	NP_001160022.1:p.Pro390=