Canonical Allele Identifier: CA549264657

Gene: IDUA

Linked Data

• dbSNP Id: rs1363471374
• gnomAD v2: 4-996482-ACGACCCCACGCGGCG-A
• gnomAD v3: 4-1002694-ACGACCCCACGCGGCG-A
• gnomAD v4: 4-1002694-ACGACCCCACGCGGCG-A
• MyVariant Identifiers: chr4:g.996483_996497del (hg19) ; chr4:g.1002695_1002709del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002695_1002709del , CM000666.2:g.1002695_1002709del	GRCh38
NC_000004.11:g.996483_996497del , CM000666.1:g.996483_996497del	GRCh37
NC_000004.10:g.986483_986497del	NCBI36
NG_008103.1:g.20699_20713del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1190-37_1190-23del	ENSP00000247933.4:n.1190-37_1190-23del
ENST00000514224.2:c.1190-37_1190-23del MANE Select	ENSP00000425081.2:n.1190-37_1190-23del
ENST00000652070.1:n.1246-37_1246-23del
ENST00000247933.8:c.1190-37_1190-23del	ENSP00000247933.4:n.1190-37_1190-23del
ENST00000514224.1:c.794-37_794-23del	ENSP00000425081.1:n.794-37_794-23del
ENST00000514698.5:n.1297-37_1297-23del
NM_000203.4:c.1190-37_1190-23del	NP_000194.2:n.1190-37_1190-23del
NR_110313.1:n.1278-37_1278-23del
XM_006713882.2:c.794-37_794-23del	XP_006713945.1:n.794-37_794-23del
XM_011513459.1:c.1256-37_1256-23del	XP_011511761.1:n.1256-37_1256-23del
XM_011513460.1:c.1049-37_1049-23del	XP_011511762.1:n.1049-37_1049-23del
XM_011513461.1:c.983-37_983-23del	XP_011511763.1:n.983-37_983-23del
XM_011513462.1:c.902-37_902-23del	XP_011511764.1:n.902-37_902-23del
XM_011513463.1:c.902-37_902-23del	XP_011511765.1:n.902-37_902-23del
XR_924947.1:n.1259-37_1259-23del
NM_000203.5:c.1190-37_1190-23del MANE Select	NP_000194.2:n.1190-37_1190-23del
NM_001363576.1:c.794-37_794-23del	NP_001350505.1:n.794-37_794-23del
XM_011513461.2:c.983-37_983-23del	XP_011511763.1:n.983-37_983-23del
XM_017008163.1:c.230-37_230-23del	XP_016863652.1:n.230-37_230-23del