Canonical Allele Identifier: CA2646588260

Gene: EVI5

Linked Data

• gnomAD v4: 1-92607343-TCCAGGAAATTAAATTAACCAAGGAAGTGACTGAAAATGTTTCTTGACTAAAATCCACC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.92607348_92607405del , CM000663.2:g.92607348_92607405del	GRCh38
NC_000001.10:g.93072905_93072962del , CM000663.1:g.93072905_93072962del	GRCh37
NC_000001.9:g.92845493_92845550del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000540033.3:c.1959+180_1959+237del	ENSP00000440826.2:n.1959+180_1959+237del
ENST00000706843.1:c.1950+180_1950+237del	ENSP00000516584.1:n.1950+180_1950+237del
ENST00000706845.1:c.*1807+180_*1807+237del	ENSP00000516587.1:n.*1807+180_*1807+237del
ENST00000706846.1:c.1974+180_1974+237del	ENSP00000516588.1:n.1974+180_1974+237del
ENST00000706867.1:c.2055+180_2055+237del	ENSP00000516594.1:n.2055+180_2055+237del
ENST00000706868.1:c.1974+180_1974+237del	ENSP00000516595.1:n.1974+180_1974+237del
ENST00000706869.1:n.310-3602_310-3545del
ENST00000706883.1:c.762+180_762+237del	ENSP00000516600.1:n.762+180_762+237del
ENST00000706885.1:c.1839+180_1839+237del	ENSP00000516601.1:n.1839+180_1839+237del
ENST00000684568.2:c.1974+180_1974+237del MANE Select	ENSP00000506999.1:n.1974+180_1974+237del
ENST00000370331.5:c.1926+180_1926+237del	ENSP00000359356.1:n.1926+180_1926+237del
ENST00000491940.5:n.779+180_779+237del
ENST00000540033.2:c.1959+180_1959+237del	ENSP00000440826.2:n.1959+180_1959+237del
NM_001308248.1:c.1959+180_1959+237del	NP_001295177.1:n.1959+180_1959+237del
NM_005665.4:c.1926+180_1926+237del	NP_005656.4:n.1926+180_1926+237del
NM_005665.5:c.1926+180_1926+237del	NP_005656.4:n.1926+180_1926+237del
XM_011542099.1:c.2178+180_2178+237del	XP_011540401.1:n.2178+180_2178+237del
XM_011542100.1:c.2178+180_2178+237del	XP_011540402.1:n.2178+180_2178+237del
XM_011542101.1:c.2055+180_2055+237del	XP_011540403.1:n.2055+180_2055+237del
XM_011542102.1:c.2031+180_2031+237del	XP_011540404.1:n.2031+180_2031+237del
XM_011542103.1:c.2032-1999_2032-1942del	XP_011540405.1:n.2032-1999_2032-1942del
XM_011542104.1:c.2019+180_2019+237del	XP_011540406.1:n.2019+180_2019+237del
XM_011542105.1:c.1998+180_1998+237del	XP_011540407.1:n.1998+180_1998+237del
XM_011542107.1:c.1926+180_1926+237del	XP_011540409.1:n.1926+180_1926+237del
XM_011542108.1:c.2178+180_2178+237del	XP_011540410.1:n.2178+180_2178+237del
XM_011542109.1:c.2178+180_2178+237del	XP_011540411.1:n.2178+180_2178+237del
NM_001350197.1:c.1974+180_1974+237del	NP_001337126.1:n.1974+180_1974+237del
NM_001350198.1:c.1974+180_1974+237del	NP_001337127.1:n.1974+180_1974+237del
XM_017002269.1:c.2187+180_2187+237del	XP_016857758.1:n.2187+180_2187+237del
XM_017002270.2:c.2178+180_2178+237del	XP_016857759.1:n.2178+180_2178+237del
XM_017002271.2:c.2106+180_2106+237del	XP_016857760.1:n.2106+180_2106+237del
XM_017002272.1:c.2187+180_2187+237del	XP_016857761.1:n.2187+180_2187+237del
XM_017002273.2:c.2055+180_2055+237del	XP_016857762.1:n.2055+180_2055+237del
XM_017002274.1:c.2055+180_2055+237del	XP_016857763.1:n.2055+180_2055+237del
XM_017002275.1:c.2055+180_2055+237del	XP_016857764.1:n.2055+180_2055+237del
XM_017002276.2:c.1974+180_1974+237del	XP_016857765.1:n.1974+180_1974+237del
XM_017002277.1:c.1959+180_1959+237del	XP_016857766.1:n.1959+180_1959+237del
XM_017002278.1:c.2040+180_2040+237del	XP_016857767.1:n.2040+180_2040+237del
XM_017002279.1:c.1920+180_1920+237del	XP_016857768.1:n.1920+180_1920+237del
XM_017002281.2:c.1950+180_1950+237del	XP_016857770.1:n.1950+180_1950+237del
XM_017002282.1:c.2187+180_2187+237del	XP_016857771.1:n.2187+180_2187+237del
XM_017002283.1:c.2106+180_2106+237del	XP_016857772.1:n.2106+180_2106+237del
XM_017002284.2:c.1827+180_1827+237del	XP_016857773.1:n.1827+180_1827+237del
XM_017002286.2:c.1563+180_1563+237del	XP_016857775.1:n.1563+180_1563+237del
XM_017002287.2:c.1563+180_1563+237del	XP_016857776.1:n.1563+180_1563+237del
XM_017002288.1:c.1563+180_1563+237del	XP_016857777.1:n.1563+180_1563+237del
XM_024449686.1:c.2106+180_2106+237del	XP_024305454.1:n.2106+180_2106+237del
XM_024449689.1:c.2007+180_2007+237del	XP_024305457.1:n.2007+180_2007+237del
XM_024449690.1:c.1839+180_1839+237del	XP_024305458.1:n.1839+180_1839+237del
NM_001308248.2:c.1959+180_1959+237del	NP_001295177.1:n.1959+180_1959+237del
NM_001350197.2:c.1974+180_1974+237del MANE Select	NP_001337126.1:n.1974+180_1974+237del
NM_001350198.2:c.1974+180_1974+237del	NP_001337127.1:n.1974+180_1974+237del
NM_001377210.1:c.1950+180_1950+237del	NP_001364139.1:n.1950+180_1950+237del
NM_001377211.1:c.1932+180_1932+237del	NP_001364140.1:n.1932+180_1932+237del
NM_001377212.1:c.1827+180_1827+237del	NP_001364141.1:n.1827+180_1827+237del
NM_001377213.1:c.2055+180_2055+237del	NP_001364142.1:n.2055+180_2055+237del
NM_005665.6:c.1926+180_1926+237del	NP_005656.4:n.1926+180_1926+237del