Canonical Allele Identifier: CA2646588517

Gene: EVI5

Linked Data

• gnomAD v4: 1-92607719-GA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.92607720del , CM000663.2:g.92607720del	GRCh38
NC_000001.10:g.93073277del , CM000663.1:g.93073277del	GRCh37
NC_000001.9:g.92845865del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000540033.3:c.1820del	ENSP00000440826.2:p.Ile607ThrfsTer13
ENST00000706843.1:c.1811del	ENSP00000516584.1:p.Ile604ThrfsTer13
ENST00000706845.1:c.*1668del	ENSP00000516587.1:n.*1668del
ENST00000706846.1:c.1835del	ENSP00000516588.1:p.Ile612ThrfsTer13
ENST00000706867.1:c.1916del	ENSP00000516594.1:p.Ile639ThrfsTer13
ENST00000706868.1:c.1835del	ENSP00000516595.1:p.Ile612ThrfsTer13
ENST00000706869.1:n.310-3921del
ENST00000706883.1:c.623del	ENSP00000516600.1:p.Ile208ThrfsTer13
ENST00000706885.1:c.1700del	ENSP00000516601.1:p.Ile567ThrfsTer13
ENST00000684568.2:c.1835del MANE Select	ENSP00000506999.1:p.Ile612ThrfsTer13
ENST00000370331.5:c.1787del	ENSP00000359356.1:p.Ile596ThrfsTer13
ENST00000468580.5:n.550del
ENST00000491940.5:n.640del
ENST00000492513.5:n.308del
ENST00000540033.2:c.1820del	ENSP00000440826.2:p.Ile607ThrfsTer13
NM_001308248.1:c.1820del	NP_001295177.1:p.Ile607ThrfsTer13
NM_005665.4:c.1787del	NP_005656.4:p.Ile596ThrfsTer13
NM_005665.5:c.1787del	NP_005656.4:p.Ile596ThrfsTer13
XM_011542099.1:c.2039del	XP_011540401.1:p.Ile680ThrfsTer13
XM_011542100.1:c.2039del	XP_011540402.1:p.Ile680ThrfsTer13
XM_011542101.1:c.1916del	XP_011540403.1:p.Ile639ThrfsTer13
XM_011542102.1:c.1892del	XP_011540404.1:p.Ile631ThrfsTer13
XM_011542103.1:c.2032-2318del	XP_011540405.1:n.2032-2318del
XM_011542104.1:c.1880del	XP_011540406.1:p.Ile627ThrfsTer13
XM_011542105.1:c.1859del	XP_011540407.1:p.Ile620ThrfsTer13
XM_011542107.1:c.1787del	XP_011540409.1:p.Ile596ThrfsTer13
XM_011542108.1:c.2039del	XP_011540410.1:p.Ile680ThrfsTer13
XM_011542109.1:c.2039del	XP_011540411.1:p.Ile680ThrfsTer13
NM_001350197.1:c.1835del	NP_001337126.1:p.Ile612ThrfsTer13
NM_001350198.1:c.1835del	NP_001337127.1:p.Ile612ThrfsTer13
XM_017002269.1:c.2048del	XP_016857758.1:p.Ile683ThrfsTer13
XM_017002270.2:c.2039del	XP_016857759.1:p.Ile680ThrfsTer13
XM_017002271.2:c.1967del	XP_016857760.1:p.Ile656ThrfsTer13
XM_017002272.1:c.2048del	XP_016857761.1:p.Ile683ThrfsTer13
XM_017002273.2:c.1916del	XP_016857762.1:p.Ile639ThrfsTer13
XM_017002274.1:c.1916del	XP_016857763.1:p.Ile639ThrfsTer13
XM_017002275.1:c.1916del	XP_016857764.1:p.Ile639ThrfsTer13
XM_017002276.2:c.1835del	XP_016857765.1:p.Ile612ThrfsTer13
XM_017002277.1:c.1820del	XP_016857766.1:p.Ile607ThrfsTer13
XM_017002278.1:c.1901del	XP_016857767.1:p.Ile634ThrfsTer13
XM_017002279.1:c.1781del	XP_016857768.1:p.Ile594ThrfsTer13
XM_017002281.2:c.1811del	XP_016857770.1:p.Ile604ThrfsTer13
XM_017002282.1:c.2048del	XP_016857771.1:p.Ile683ThrfsTer13
XM_017002283.1:c.1967del	XP_016857772.1:p.Ile656ThrfsTer13
XM_017002284.2:c.1688del	XP_016857773.1:p.Ile563ThrfsTer13
XM_017002286.2:c.1424del	XP_016857775.1:p.Ile475ThrfsTer13
XM_017002287.2:c.1424del	XP_016857776.1:p.Ile475ThrfsTer13
XM_017002288.1:c.1424del	XP_016857777.1:p.Ile475ThrfsTer13
XM_024449686.1:c.1967del	XP_024305454.1:p.Ile656ThrfsTer13
XM_024449689.1:c.1868del	XP_024305457.1:p.Ile623ThrfsTer13
XM_024449690.1:c.1700del	XP_024305458.1:p.Ile567ThrfsTer13
NM_001308248.2:c.1820del	NP_001295177.1:p.Ile607ThrfsTer13
NM_001350197.2:c.1835del MANE Select	NP_001337126.1:p.Ile612ThrfsTer13
NM_001350198.2:c.1835del	NP_001337127.1:p.Ile612ThrfsTer13
NM_001377210.1:c.1811del	NP_001364139.1:p.Ile604ThrfsTer13
NM_001377211.1:c.1793del	NP_001364140.1:p.Ile598ThrfsTer13
NM_001377212.1:c.1688del	NP_001364141.1:p.Ile563ThrfsTer13
NM_001377213.1:c.1916del	NP_001364142.1:p.Ile639ThrfsTer13
NM_005665.6:c.1787del	NP_005656.4:p.Ile596ThrfsTer13