Canonical Allele Identifier: CA2586965947

Gene: IDUA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1001976_1001977delinsGA , CM000666.2:g.1001976_1001977delinsGA	GRCh38
NC_000004.11:g.995764_995765delinsGA , CM000666.1:g.995764_995765delinsGA	GRCh37
NC_000004.10:g.985764_985765delinsGA	NCBI36
NG_008103.1:g.19980_19981delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.793-6_793-5delinsGA	ENSP00000247933.4:n.793-6_793-5delinsGA
ENST00000514224.2:c.793-6_793-5delinsGA MANE Select	ENSP00000425081.2:n.793-6_793-5delinsGA
ENST00000652070.1:n.849-6_849-5delinsGA
ENST00000247933.8:c.793-6_793-5delinsGA	ENSP00000247933.4:n.793-6_793-5delinsGA
ENST00000502910.5:c.652-6_652-5delinsGA	ENSP00000422952.1:n.652-6_652-5delinsGA
ENST00000514192.5:c.610-6_610-5delinsGA	ENSP00000423685.1:n.610-6_610-5delinsGA
ENST00000514224.1:c.397-6_397-5delinsGA	ENSP00000425081.1:n.397-6_397-5delinsGA
ENST00000514698.5:n.787_788delinsGA
NM_000203.4:c.793-6_793-5delinsGA	NP_000194.2:n.793-6_793-5delinsGA
NR_110313.1:n.881-6_881-5delinsGA
XM_006713882.2:c.397-6_397-5delinsGA	XP_006713945.1:n.397-6_397-5delinsGA
XM_011513459.1:c.746_747delinsGA	XP_011511761.1:p.Pro249Arg
XM_011513460.1:c.652-6_652-5delinsGA	XP_011511762.1:n.652-6_652-5delinsGA
XM_011513461.1:c.586-6_586-5delinsGA	XP_011511763.1:n.586-6_586-5delinsGA
XM_011513462.1:c.505-6_505-5delinsGA	XP_011511764.1:n.505-6_505-5delinsGA
XM_011513463.1:c.505-6_505-5delinsGA	XP_011511765.1:n.505-6_505-5delinsGA
XR_924947.1:n.862-6_862-5delinsGA
NM_000203.5:c.793-6_793-5delinsGA MANE Select	NP_000194.2:n.793-6_793-5delinsGA
NM_001363576.1:c.397-6_397-5delinsGA	NP_001350505.1:n.397-6_397-5delinsGA
XM_011513461.2:c.586-6_586-5delinsGA	XP_011511763.1:n.586-6_586-5delinsGA
XM_017008163.1:c.-168-6_-168-5delinsGA	XP_016863652.1:n.-168-6_-168-5delinsGA