Canonical Allele Identifier: CA913108034

Gene: IDUA

Linked Data

• MyVariant Identifiers: chr4:g.995614_995617del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1001826_1001829del , CM000666.2:g.1001826_1001829del	GRCh38
NC_000004.11:g.995614_995617del , CM000666.1:g.995614_995617del	GRCh37
NC_000004.10:g.985614_985617del	NCBI36
NG_008103.1:g.19830_19833del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.737_740del	ENSP00000247933.4:p.Asn246ThrfsTer?
ENST00000514224.2:c.737_740del MANE Select	ENSP00000425081.2:p.Asn246ThrfsTer?
ENST00000652070.1:n.793_796del
ENST00000247933.8:c.737_740del	ENSP00000247933.4:p.Asn246ThrfsTer?
ENST00000502910.5:c.596_599del	ENSP00000422952.1:p.Asn199ThrfsTer?
ENST00000514192.5:c.554_557del	ENSP00000423685.1:p.Asn185ThrfsTer?
ENST00000514224.1:c.341_344del	ENSP00000425081.1:p.Asn114ThrfsTer?
ENST00000514698.5:n.637_640del
NM_000203.4:c.737_740del	NP_000194.2:p.Asn246ThrfsTer?
NR_110313.1:n.825_828del
XM_006713882.2:c.341_344del	XP_006713945.1:p.Asn114ThrfsTer?
XM_011513459.1:c.596_599del	XP_011511761.1:p.Asn199ThrfsTer?
XM_011513460.1:c.596_599del	XP_011511762.1:p.Asn199ThrfsTer?
XM_011513461.1:c.530_533del	XP_011511763.1:p.Asn177ThrfsTer?
XM_011513462.1:c.449_452del	XP_011511764.1:p.Asn150ThrfsTer?
XM_011513463.1:c.449_452del	XP_011511765.1:p.Asn150ThrfsTer?
XR_924947.1:n.806_809del
NM_000203.5:c.737_740del MANE Select	NP_000194.2:p.Asn246ThrfsTer?
NM_001363576.1:c.341_344del	NP_001350505.1:p.Asn114ThrfsTer?
XM_011513461.2:c.530_533del	XP_011511763.1:p.Asn177ThrfsTer?
XM_017008163.1:c.-224_-221del	XP_016863652.1:n.-224_-221del