Canonical Allele Identifier: CA2669481607

Gene: IDUA

Linked Data

• gnomAD v4: 4-1002365-CCGCACCCCTTCG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002370_1002381del , CM000666.2:g.1002370_1002381del	GRCh38
NC_000004.11:g.996158_996169del , CM000666.1:g.996158_996169del	GRCh37
NC_000004.10:g.986158_986169del	NCBI36
NG_008103.1:g.20374_20385del

Transcript Alleles

HGVS	Amino-acid change
ENST00000247933.9:c.1074_1085del	ENSP00000247933.4:p.His358_Ala361del
ENST00000514224.2:c.1074_1085del MANE Select	ENSP00000425081.2:p.His358_Ala361del
ENST00000652070.1:n.1130_1141del
ENST00000247933.8:c.1074_1085del	ENSP00000247933.4:p.His358_Ala361del
ENST00000514224.1:c.678_689del	ENSP00000425081.1:p.His226_Ala229del
ENST00000514698.5:n.1181_1192del
NM_000203.4:c.1074_1085del	NP_000194.2:p.His358_Ala361del
NR_110313.1:n.1162_1173del
XM_006713882.2:c.678_689del	XP_006713945.1:p.His226_Ala229del
XM_011513459.1:c.1140_1151del	XP_011511761.1:p.His380_Ala383del
XM_011513460.1:c.933_944del	XP_011511762.1:p.His311_Ala314del
XM_011513461.1:c.867_878del	XP_011511763.1:p.His289_Ala292del
XM_011513462.1:c.786_797del	XP_011511764.1:p.His262_Ala265del
XM_011513463.1:c.786_797del	XP_011511765.1:p.His262_Ala265del
XR_924947.1:n.1143_1154del
NM_000203.5:c.1074_1085del MANE Select	NP_000194.2:p.His358_Ala361del
NM_001363576.1:c.678_689del	NP_001350505.1:p.His226_Ala229del
XM_011513461.2:c.867_878del	XP_011511763.1:p.His289_Ala292del
XM_017008163.1:c.114_125del	XP_016863652.1:p.His38_Ala41del