Canonical Allele Identifier: CA1058439267

Gene: IDUA

Linked Data

• dbSNP Id: rs1715248058
• gnomAD v3: 4-1003478-GCAGTCCC-G
• gnomAD v4: 4-1003478-GCAGTCCC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1003480_1003486del , CM000666.2:g.1003480_1003486del	GRCh38
NC_000004.11:g.997268_997274del , CM000666.1:g.997268_997274del	GRCh37
NC_000004.10:g.987268_987274del	NCBI36
NG_008103.1:g.21484_21490del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1650+10_1650+16del	ENSP00000247933.4:n.1650+10_1650+16del
ENST00000514224.2:c.1650+10_1650+16del MANE Select	ENSP00000425081.2:n.1650+10_1650+16del
ENST00000652070.1:n.1706+10_1706+16del
ENST00000247933.8:c.1650+10_1650+16del	ENSP00000247933.4:n.1650+10_1650+16del
ENST00000514224.1:c.1254+10_1254+16del	ENSP00000425081.1:n.1254+10_1254+16del
ENST00000514417.1:n.42+10_42+16del
ENST00000514698.5:n.1757+10_1757+16del
NM_000203.4:c.1650+10_1650+16del	NP_000194.2:n.1650+10_1650+16del
NR_110313.1:n.1738+10_1738+16del
XM_006713882.2:c.1254+10_1254+16del	XP_006713945.1:n.1254+10_1254+16del
XM_011513459.1:c.1716+10_1716+16del	XP_011511761.1:n.1716+10_1716+16del
XM_011513460.1:c.1509+10_1509+16del	XP_011511762.1:n.1509+10_1509+16del
XM_011513461.1:c.1443+10_1443+16del	XP_011511763.1:n.1443+10_1443+16del
XM_011513462.1:c.1362+10_1362+16del	XP_011511764.1:n.1362+10_1362+16del
XM_011513463.1:c.1362+10_1362+16del	XP_011511765.1:n.1362+10_1362+16del
XR_924947.1:n.1906+10_1906+16del
NM_000203.5:c.1650+10_1650+16del MANE Select	NP_000194.2:n.1650+10_1650+16del
NM_001363576.1:c.1254+10_1254+16del	NP_001350505.1:n.1254+10_1254+16del
XM_011513461.2:c.1443+10_1443+16del	XP_011511763.1:n.1443+10_1443+16del
XM_017008163.1:c.690+10_690+16del	XP_016863652.1:n.690+10_690+16del