Canonical Allele Identifier: CA2802132

Gene: IDUA

Linked Data

• ClinVar Variation Id: 1938424
• ClinVar RCV Id: RCV002662634
• dbSNP Id: rs753002350
• ExAC: 4:995960 CCAACGCCCT / C
• gnomAD v2: 4-995960-CCAACGCCCT-C
• gnomAD v4: 4-1002172-CCAACGCCCT-C
• MyVariant Identifiers: chr4:g.995961_995969del (hg19) ; chr4:g.1002173_1002181del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002173_1002181del , CM000666.2:g.1002173_1002181del	GRCh38
NC_000004.11:g.995961_995969del , CM000666.1:g.995961_995969del	GRCh37
NC_000004.10:g.985961_985969del	NCBI36
NG_008103.1:g.20177_20185del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.972+12_972+20del	ENSP00000247933.4:n.972+12_972+20del
ENST00000514224.2:c.972+12_972+20del MANE Select	ENSP00000425081.2:n.972+12_972+20del
ENST00000652070.1:n.1028+12_1028+20del
ENST00000247933.8:c.972+12_972+20del	ENSP00000247933.4:n.972+12_972+20del
ENST00000514224.1:c.576+12_576+20del	ENSP00000425081.1:n.576+12_576+20del
ENST00000514698.5:n.984_992del
NM_000203.4:c.972+12_972+20del	NP_000194.2:n.972+12_972+20del
NR_110313.1:n.1060+12_1060+20del
XM_006713882.2:c.576+12_576+20del	XP_006713945.1:n.576+12_576+20del
XM_011513459.1:c.943_951del	XP_011511761.1:p.Gln315_Pro317del
XM_011513460.1:c.831+12_831+20del	XP_011511762.1:n.831+12_831+20del
XM_011513461.1:c.765+12_765+20del	XP_011511763.1:n.765+12_765+20del
XM_011513462.1:c.684+12_684+20del	XP_011511764.1:n.684+12_684+20del
XM_011513463.1:c.684+12_684+20del	XP_011511765.1:n.684+12_684+20del
XR_924947.1:n.1041+12_1041+20del
NM_000203.5:c.972+12_972+20del MANE Select	NP_000194.2:n.972+12_972+20del
NM_001363576.1:c.576+12_576+20del	NP_001350505.1:n.576+12_576+20del
XM_011513461.2:c.765+12_765+20del	XP_011511763.1:n.765+12_765+20del
XM_017008163.1:c.12+12_12+20del	XP_016863652.1:n.12+12_12+20del