Canonical Allele Identifier: CA2465004083

Gene: IDS

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149483178_149483185delinsAAAAAGAG , CM000685.2:g.149483178_149483185delinsAAAAAGAG	GRCh38
NC_000023.10:g.148564709_148564716delinsAAAAAGAG , CM000685.1:g.148564709_148564716delinsAAAAAGAG	GRCh37
NC_000023.9:g.148372614_148372621delinsAAAAAGAG	NCBI36
NG_011900.3:g.27150_27157delinsCTCTTTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.1214_1221delinsCTCTTTTT MANE Select	ENSP00000339801.6:p.Ser405=
ENST00000651111.1:c.581_588delinsCTCTTTTT	ENSP00000498395.1:p.Ser194=
ENST00000340855.10:c.1214_1221delinsCTCTTTTT	ENSP00000339801.6:p.Ser405=
ENST00000422081.6:c.581_588delinsCTCTTTTT	ENSP00000477056.1:p.Ser194=
ENST00000441880.1:n.321_328delinsCTCTTTTT
NM_000202.6:c.1214_1221delinsCTCTTTTT	NP_000193.1:p.Ser405=
NM_001166550.2:c.944_951delinsCTCTTTTT	NP_001160022.1:p.Ser315=
NM_000202.7:c.1214_1221delinsCTCTTTTT	NP_000193.1:p.Ser405=
NM_001166550.3:c.944_951delinsCTCTTTTT	NP_001160022.1:p.Ser315=
NM_000202.8:c.1214_1221delinsCTCTTTTT MANE Select	NP_000193.1:p.Ser405=
NM_001166550.4:c.944_951delinsCTCTTTTT	NP_001160022.1:p.Ser315=