Canonical Allele Identifier: CA549264559

Gene: IDUA

Linked Data

• ClinVar Variation Id: 558899
• ClinVar RCV Id: RCV000675616
• dbSNP Id: rs572565537
• gnomAD v2: 4-996969-GGGGCC-G
• gnomAD v3: 4-1003181-GGGGCC-G
• gnomAD v4: 4-1003181-GGGGCC-G
• MyVariant Identifiers: chr4:g.996983_996987del (hg19) ; chr4:g.996975_996979del (hg19) ; chr4:g.996970_996974del (hg19) ; chr4:g.1003195_1003199del (hg38) ; chr4:g.1003187_1003191del (hg38) ; chr4:g.1003182_1003186del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1003195_1003199del , CM000666.2:g.1003195_1003199del	GRCh38
NC_000004.11:g.996983_996987del , CM000666.1:g.996983_996987del	GRCh37
NC_000004.10:g.986983_986987del	NCBI36
NG_008103.1:g.21199_21203del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1524+38_1524+42del	ENSP00000247933.4:n.1524+38_1524+42del
ENST00000514224.2:c.1524+38_1524+42del MANE Select	ENSP00000425081.2:n.1524+38_1524+42del
ENST00000652070.1:n.1580+38_1580+42del
ENST00000247933.8:c.1524+38_1524+42del	ENSP00000247933.4:n.1524+38_1524+42del
ENST00000502829.1:n.364_368del
ENST00000514224.1:c.1128+38_1128+42del	ENSP00000425081.1:n.1128+38_1128+42del
ENST00000514698.5:n.1631+38_1631+42del
NM_000203.4:c.1524+38_1524+42del	NP_000194.2:n.1524+38_1524+42del
NR_110313.1:n.1612+38_1612+42del
XM_006713882.2:c.1128+38_1128+42del	XP_006713945.1:n.1128+38_1128+42del
XM_011513459.1:c.1590+38_1590+42del	XP_011511761.1:n.1590+38_1590+42del
XM_011513460.1:c.1383+38_1383+42del	XP_011511762.1:n.1383+38_1383+42del
XM_011513461.1:c.1317+38_1317+42del	XP_011511763.1:n.1317+38_1317+42del
XM_011513462.1:c.1236+38_1236+42del	XP_011511764.1:n.1236+38_1236+42del
XM_011513463.1:c.1236+38_1236+42del	XP_011511765.1:n.1236+38_1236+42del
XR_924947.1:n.1631_1635del
NM_000203.5:c.1524+38_1524+42del MANE Select	NP_000194.2:n.1524+38_1524+42del
NM_001363576.1:c.1128+38_1128+42del	NP_001350505.1:n.1128+38_1128+42del
XM_011513461.2:c.1317+38_1317+42del	XP_011511763.1:n.1317+38_1317+42del
XM_017008163.1:c.564+38_564+42del	XP_016863652.1:n.564+38_564+42del