Canonical Allele Identifier: CA2760125566

Gene: IDUA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002215_1002217del , CM000666.2:g.1002215_1002217del	GRCh38
NC_000004.11:g.996003_996005del , CM000666.1:g.996003_996005del	GRCh37
NC_000004.10:g.986003_986005del	NCBI36
NG_008103.1:g.20219_20221del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.973-54_973-52del	ENSP00000247933.4:n.973-54_973-52del
ENST00000514224.2:c.973-54_973-52del MANE Select	ENSP00000425081.2:n.973-54_973-52del
ENST00000652070.1:n.1029-54_1029-52del
ENST00000247933.8:c.973-54_973-52del	ENSP00000247933.4:n.973-54_973-52del
ENST00000514224.1:c.577-54_577-52del	ENSP00000425081.1:n.577-54_577-52del
ENST00000514698.5:n.1026_1028del
NM_000203.4:c.973-54_973-52del	NP_000194.2:n.973-54_973-52del
NR_110313.1:n.1061-54_1061-52del
XM_006713882.2:c.577-54_577-52del	XP_006713945.1:n.577-54_577-52del
XM_011513459.1:c.985_987del	XP_011511761.1:p.Asp329del
XM_011513460.1:c.832-54_832-52del	XP_011511762.1:n.832-54_832-52del
XM_011513461.1:c.766-54_766-52del	XP_011511763.1:n.766-54_766-52del
XM_011513462.1:c.685-54_685-52del	XP_011511764.1:n.685-54_685-52del
XM_011513463.1:c.685-54_685-52del	XP_011511765.1:n.685-54_685-52del
XR_924947.1:n.1042-54_1042-52del
NM_000203.5:c.973-54_973-52del MANE Select	NP_000194.2:n.973-54_973-52del
NM_001363576.1:c.577-54_577-52del	NP_001350505.1:n.577-54_577-52del
XM_011513461.2:c.766-54_766-52del	XP_011511763.1:n.766-54_766-52del
XM_017008163.1:c.13-54_13-52del	XP_016863652.1:n.13-54_13-52del