Canonical Allele Identifier: CA549264513

Gene: IDUA

Linked Data

• dbSNP Id: rs1263695618
• gnomAD v2: 4-995970-GC-G
• gnomAD v4: 4-1002182-GC-G
• MyVariant Identifiers: chr4:g.995971del (hg19) ; chr4:g.1002183del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002183del , CM000666.2:g.1002183del	GRCh38
NC_000004.11:g.995971del , CM000666.1:g.995971del	GRCh37
NC_000004.10:g.985971del	NCBI36
NG_008103.1:g.20187del

Transcript Alleles

HGVS	Amino-acid change
ENST00000247933.9:c.972+22del	ENSP00000247933.4:n.972+22del
ENST00000514224.2:c.972+22del MANE Select	ENSP00000425081.2:n.972+22del
ENST00000652070.1:n.1028+22del
ENST00000247933.8:c.972+22del	ENSP00000247933.4:n.972+22del
ENST00000514224.1:c.576+22del	ENSP00000425081.1:n.576+22del
ENST00000514698.5:n.994del
NM_000203.4:c.972+22del	NP_000194.2:n.972+22del
NR_110313.1:n.1060+22del
XM_006713882.2:c.576+22del	XP_006713945.1:n.576+22del
XM_011513459.1:c.953del	XP_011511761.1:p.Ala318GlyfsTer?
XM_011513460.1:c.831+22del	XP_011511762.1:n.831+22del
XM_011513461.1:c.765+22del	XP_011511763.1:n.765+22del
XM_011513462.1:c.684+22del	XP_011511764.1:n.684+22del
XM_011513463.1:c.684+22del	XP_011511765.1:n.684+22del
XR_924947.1:n.1041+22del
NM_000203.5:c.972+22del MANE Select	NP_000194.2:n.972+22del
NM_001363576.1:c.576+22del	NP_001350505.1:n.576+22del
XM_011513461.2:c.765+22del	XP_011511763.1:n.765+22del
XM_017008163.1:c.12+22del	XP_016863652.1:n.12+22del