Canonical Allele Identifier: CA2586973524

Gene: IDUA

Linked Data

• gnomAD v4: 4-1001661-AGTGCTCCCCCGGCCCAGGCTTCCTGAACTACTACG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1001662_1001696del , CM000666.2:g.1001662_1001696del	GRCh38
NC_000004.11:g.995450_995484del , CM000666.1:g.995450_995484del	GRCh37
NC_000004.10:g.985450_985484del	NCBI36
NG_008103.1:g.19666_19700del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.590-17_607del
ENST00000514224.2:c.590-17_607del
ENST00000652070.1:n.646-17_663del
ENST00000247933.8:c.590-17_607del
ENST00000502910.5:c.449-17_466del
ENST00000504568.5:c.550-17_567del
ENST00000509948.5:c.383-17_400del
ENST00000514192.5:c.407-17_424del
ENST00000514224.1:c.194-17_211del
ENST00000514698.5:n.490-17_507del
NM_000203.4:c.590-17_607del
NR_110313.1:n.678-17_695del
XM_006713882.2:c.194-17_211del
XM_011513459.1:c.449-17_466del
XM_011513460.1:c.449-17_466del
XM_011513461.1:c.383-17_400del
XM_011513462.1:c.302-17_319del
XM_011513463.1:c.302-17_319del
XR_924947.1:n.659-17_676del
NM_000203.5:c.590-17_607del
NM_001363576.1:c.194-17_211del
XM_011513461.2:c.383-17_400del
XM_017008163.1:c.-388_-354del	XP_016863652.1:n.-388_-354del