Canonical Allele Identifier: CA2760125711

Gene: IDUA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1003247_1003248insTCTCCTA , CM000666.2:g.1003247_1003248insTCTCCTA	GRCh38
NC_000004.11:g.997035_997036insTCTCCTA , CM000666.1:g.997035_997036insTCTCCTA	GRCh37
NC_000004.10:g.987035_987036insTCTCCTA	NCBI36
NG_008103.1:g.21251_21252insTCTCCTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1524+90_1524+91insTCTCCTA	ENSP00000247933.4:n.1524+90_1524+91insTCTCCTA
ENST00000514224.2:c.1524+90_1524+91insTCTCCTA MANE Select	ENSP00000425081.2:n.1524+90_1524+91insTCTCCTA
ENST00000652070.1:n.1580+90_1580+91insTCTCCTA
ENST00000247933.8:c.1524+90_1524+91insTCTCCTA	ENSP00000247933.4:n.1524+90_1524+91insTCTCCTA
ENST00000502829.1:n.416_417insTCTCCTA
ENST00000514224.1:c.1128+90_1128+91insTCTCCTA	ENSP00000425081.1:n.1128+90_1128+91insTCTCCTA
ENST00000514698.5:n.1631+90_1631+91insTCTCCTA
NM_000203.4:c.1524+90_1524+91insTCTCCTA	NP_000194.2:n.1524+90_1524+91insTCTCCTA
NR_110313.1:n.1612+90_1612+91insTCTCCTA
XM_006713882.2:c.1128+90_1128+91insTCTCCTA	XP_006713945.1:n.1128+90_1128+91insTCTCCTA
XM_011513459.1:c.1590+90_1590+91insTCTCCTA	XP_011511761.1:n.1590+90_1590+91insTCTCCTA
XM_011513460.1:c.1383+90_1383+91insTCTCCTA	XP_011511762.1:n.1383+90_1383+91insTCTCCTA
XM_011513461.1:c.1317+90_1317+91insTCTCCTA	XP_011511763.1:n.1317+90_1317+91insTCTCCTA
XM_011513462.1:c.1236+90_1236+91insTCTCCTA	XP_011511764.1:n.1236+90_1236+91insTCTCCTA
XM_011513463.1:c.1236+90_1236+91insTCTCCTA	XP_011511765.1:n.1236+90_1236+91insTCTCCTA
XR_924947.1:n.1683_1684insTCTCCTA
NM_000203.5:c.1524+90_1524+91insTCTCCTA MANE Select	NP_000194.2:n.1524+90_1524+91insTCTCCTA
NM_001363576.1:c.1128+90_1128+91insTCTCCTA	NP_001350505.1:n.1128+90_1128+91insTCTCCTA
XM_011513461.2:c.1317+90_1317+91insTCTCCTA	XP_011511763.1:n.1317+90_1317+91insTCTCCTA
XM_017008163.1:c.564+90_564+91insTCTCCTA	XP_016863652.1:n.564+90_564+91insTCTCCTA