Canonical Allele Identifier: CA2646588547

Gene: EVI5

Linked Data

• gnomAD v4: 1-92607773-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.92607773A>G , CM000663.2:g.92607773A>G	GRCh38
NC_000001.10:g.93073330A>G , CM000663.1:g.93073330A>G	GRCh37
NC_000001.9:g.92845918A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000540033.3:c.1813-46T>C	ENSP00000440826.2:n.1813-46T>C
ENST00000706843.1:c.1804-46T>C	ENSP00000516584.1:n.1804-46T>C
ENST00000706845.1:c.*1661-46T>C	ENSP00000516587.1:n.*1661-46T>C
ENST00000706846.1:c.1828-46T>C	ENSP00000516588.1:n.1828-46T>C
ENST00000706867.1:c.1909-46T>C	ENSP00000516594.1:n.1909-46T>C
ENST00000706868.1:c.1828-46T>C	ENSP00000516595.1:n.1828-46T>C
ENST00000706869.1:n.310-3974T>C
ENST00000706883.1:c.616-46T>C	ENSP00000516600.1:n.616-46T>C
ENST00000706885.1:c.1693-46T>C	ENSP00000516601.1:n.1693-46T>C
ENST00000684568.2:c.1828-46T>C MANE Select	ENSP00000506999.1:n.1828-46T>C
ENST00000370331.5:c.1780-46T>C	ENSP00000359356.1:n.1780-46T>C
ENST00000468580.5:n.543-46T>C
ENST00000491940.5:n.633-46T>C
ENST00000492513.5:n.301-46T>C
ENST00000540033.2:c.1813-46T>C	ENSP00000440826.2:n.1813-46T>C
NM_001308248.1:c.1813-46T>C	NP_001295177.1:n.1813-46T>C
NM_005665.4:c.1780-46T>C	NP_005656.4:n.1780-46T>C
NM_005665.5:c.1780-46T>C	NP_005656.4:n.1780-46T>C
XM_011542099.1:c.2032-46T>C	XP_011540401.1:n.2032-46T>C
XM_011542100.1:c.2032-46T>C	XP_011540402.1:n.2032-46T>C
XM_011542101.1:c.1909-46T>C	XP_011540403.1:n.1909-46T>C
XM_011542102.1:c.1885-46T>C	XP_011540404.1:n.1885-46T>C
XM_011542103.1:c.2032-2371T>C	XP_011540405.1:n.2032-2371T>C
XM_011542104.1:c.1873-46T>C	XP_011540406.1:n.1873-46T>C
XM_011542105.1:c.1852-46T>C	XP_011540407.1:n.1852-46T>C
XM_011542107.1:c.1780-46T>C	XP_011540409.1:n.1780-46T>C
XM_011542108.1:c.2032-46T>C	XP_011540410.1:n.2032-46T>C
XM_011542109.1:c.2032-46T>C	XP_011540411.1:n.2032-46T>C
NM_001350197.1:c.1828-46T>C	NP_001337126.1:n.1828-46T>C
NM_001350198.1:c.1828-46T>C	NP_001337127.1:n.1828-46T>C
XM_017002269.1:c.2041-46T>C	XP_016857758.1:n.2041-46T>C
XM_017002270.2:c.2032-46T>C	XP_016857759.1:n.2032-46T>C
XM_017002271.2:c.1960-46T>C	XP_016857760.1:n.1960-46T>C
XM_017002272.1:c.2041-46T>C	XP_016857761.1:n.2041-46T>C
XM_017002273.2:c.1909-46T>C	XP_016857762.1:n.1909-46T>C
XM_017002274.1:c.1909-46T>C	XP_016857763.1:n.1909-46T>C
XM_017002275.1:c.1909-46T>C	XP_016857764.1:n.1909-46T>C
XM_017002276.2:c.1828-46T>C	XP_016857765.1:n.1828-46T>C
XM_017002277.1:c.1813-46T>C	XP_016857766.1:n.1813-46T>C
XM_017002278.1:c.1894-46T>C	XP_016857767.1:n.1894-46T>C
XM_017002279.1:c.1774-46T>C	XP_016857768.1:n.1774-46T>C
XM_017002281.2:c.1804-46T>C	XP_016857770.1:n.1804-46T>C
XM_017002282.1:c.2041-46T>C	XP_016857771.1:n.2041-46T>C
XM_017002283.1:c.1960-46T>C	XP_016857772.1:n.1960-46T>C
XM_017002284.2:c.1681-46T>C	XP_016857773.1:n.1681-46T>C
XM_017002286.2:c.1417-46T>C	XP_016857775.1:n.1417-46T>C
XM_017002287.2:c.1417-46T>C	XP_016857776.1:n.1417-46T>C
XM_017002288.1:c.1417-46T>C	XP_016857777.1:n.1417-46T>C
XM_024449686.1:c.1960-46T>C	XP_024305454.1:n.1960-46T>C
XM_024449689.1:c.1861-46T>C	XP_024305457.1:n.1861-46T>C
XM_024449690.1:c.1693-46T>C	XP_024305458.1:n.1693-46T>C
NM_001308248.2:c.1813-46T>C	NP_001295177.1:n.1813-46T>C
NM_001350197.2:c.1828-46T>C MANE Select	NP_001337126.1:n.1828-46T>C
NM_001350198.2:c.1828-46T>C	NP_001337127.1:n.1828-46T>C
NM_001377210.1:c.1804-46T>C	NP_001364139.1:n.1804-46T>C
NM_001377211.1:c.1786-46T>C	NP_001364140.1:n.1786-46T>C
NM_001377212.1:c.1681-46T>C	NP_001364141.1:n.1681-46T>C
NM_001377213.1:c.1909-46T>C	NP_001364142.1:n.1909-46T>C
NM_005665.6:c.1780-46T>C	NP_005656.4:n.1780-46T>C