Canonical Allele Identifier: CA2514271857

Gene: IDS

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149482882_149482883insGGGC , CM000685.2:g.149482882_149482883insGGGC	GRCh38
NC_000023.10:g.148564413_148564414insGGGC , CM000685.1:g.148564413_148564414insGGGC	GRCh37
NC_000023.9:g.148372318_148372319insGGGC	NCBI36
NG_011900.3:g.27452_27453insGCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.1516_1517insGCCC MANE Select	ENSP00000339801.6:p.Asn506SerfsTer4
ENST00000651111.1:c.883_884insGCCC	ENSP00000498395.1:p.Asn295SerfsTer4
ENST00000340855.10:c.1516_1517insGCCC	ENSP00000339801.6:p.Asn506SerfsTer4
ENST00000422081.6:c.883_884insGCCC	ENSP00000477056.1:p.Asn295SerfsTer4
NM_000202.6:c.1516_1517insGCCC	NP_000193.1:p.Asn506SerfsTer4
NM_001166550.2:c.1246_1247insGCCC	NP_001160022.1:p.Asn416SerfsTer4
NM_000202.7:c.1516_1517insGCCC	NP_000193.1:p.Asn506SerfsTer4
NM_001166550.3:c.1246_1247insGCCC	NP_001160022.1:p.Asn416SerfsTer4
NM_000202.8:c.1516_1517insGCCC MANE Select	NP_000193.1:p.Asn506SerfsTer4
NM_001166550.4:c.1246_1247insGCCC	NP_001160022.1:p.Asn416SerfsTer4