Canonical Allele Identifier: CA2465003992
Gene: IDS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.149482961_149482973delinsGCTTGTCAGAATT , CM000685.2:g.149482961_149482973delinsGCTTGTCAGAATT GRCh38
NC_000023.10:g.148564492_148564504delinsGCTTGTCAGAATT , CM000685.1:g.148564492_148564504delinsGCTTGTCAGAATT GRCh37
NC_000023.9:g.148372397_148372409delinsGCTTGTCAGAATT NCBI36
NG_011900.3:g.27362_27374delinsAATTCTGACAAGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000340855.11:c.1426_1438delinsAATTCTGACAAGC MANE Select ENSP00000339801.6:p.Asn476=
ENST00000651111.1:c.793_805delinsAATTCTGACAAGC ENSP00000498395.1:p.Asn265=
ENST00000340855.10:c.1426_1438delinsAATTCTGACAAGC ENSP00000339801.6:p.Asn476=
ENST00000422081.6:c.793_805delinsAATTCTGACAAGC ENSP00000477056.1:p.Asn265=
NM_000202.6:c.1426_1438delinsAATTCTGACAAGC NP_000193.1:p.Asn476=
NM_001166550.2:c.1156_1168delinsAATTCTGACAAGC NP_001160022.1:p.Asn386=
NM_000202.7:c.1426_1438delinsAATTCTGACAAGC NP_000193.1:p.Asn476=
NM_001166550.3:c.1156_1168delinsAATTCTGACAAGC NP_001160022.1:p.Asn386=
NM_000202.8:c.1426_1438delinsAATTCTGACAAGC MANE Select NP_000193.1:p.Asn476=
NM_001166550.4:c.1156_1168delinsAATTCTGACAAGC NP_001160022.1:p.Asn386=