Canonical Allele Identifier: CA519173497

Gene: IDS

Linked Data

• dbSNP Id: rs781917200
• gnomAD v3: X-149483363-AAC-A
• gnomAD v4: X-149483363-AAC-A
• MyVariant Identifiers: chrX:g.148564895_148564896del (hg19) ; chrX:g.149483364_149483365del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149483366_149483367del , CM000685.2:g.149483366_149483367del	GRCh38
NC_000023.10:g.148564897_148564898del , CM000685.1:g.148564897_148564898del	GRCh37
NC_000023.9:g.148372802_148372803del	NCBI36
NG_011900.3:g.26970_26971del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.1181-147_1181-146del MANE Select	ENSP00000339801.6:n.1181-147_1181-146del
ENST00000651111.1:c.548-147_548-146del	ENSP00000498395.1:n.548-147_548-146del
ENST00000340855.10:c.1181-147_1181-146del	ENSP00000339801.6:n.1181-147_1181-146del
ENST00000422081.6:c.548-147_548-146del	ENSP00000477056.1:n.548-147_548-146del
ENST00000441880.1:n.288-147_288-146del
NM_000202.6:c.1181-147_1181-146del	NP_000193.1:n.1181-147_1181-146del
NM_001166550.2:c.911-147_911-146del	NP_001160022.1:n.911-147_911-146del
NM_000202.7:c.1181-147_1181-146del	NP_000193.1:n.1181-147_1181-146del
NM_001166550.3:c.911-147_911-146del	NP_001160022.1:n.911-147_911-146del
NM_000202.8:c.1181-147_1181-146del MANE Select	NP_000193.1:n.1181-147_1181-146del
NM_001166550.4:c.911-147_911-146del	NP_001160022.1:n.911-147_911-146del