Canonical Allele Identifier: CA951671

Gene: EVI5

Linked Data

• dbSNP Id: rs772243686
• ExAC: 1:93073109 AAAC / A
• gnomAD v2: 1-93073109-AAAC-A
• gnomAD v3: 1-92607552-AAAC-A
• gnomAD v4: 1-92607552-AAAC-A
• MyVariant Identifiers: chr1:g.93073110_93073112del (hg19) ; chr1:g.92607553_92607555del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.92607555_92607557del , CM000663.2:g.92607555_92607557del	GRCh38
NC_000001.10:g.93073112_93073114del , CM000663.1:g.93073112_93073114del	GRCh37
NC_000001.9:g.92845700_92845702del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000540033.3:c.1959+26_1959+28del	ENSP00000440826.2:n.1959+26_1959+28del
ENST00000706843.1:c.1950+26_1950+28del	ENSP00000516584.1:n.1950+26_1950+28del
ENST00000706845.1:c.*1807+26_*1807+28del	ENSP00000516587.1:n.*1807+26_*1807+28del
ENST00000706846.1:c.1974+26_1974+28del	ENSP00000516588.1:n.1974+26_1974+28del
ENST00000706867.1:c.2055+26_2055+28del	ENSP00000516594.1:n.2055+26_2055+28del
ENST00000706868.1:c.1974+26_1974+28del	ENSP00000516595.1:n.1974+26_1974+28del
ENST00000706869.1:n.310-3756_310-3754del
ENST00000706883.1:c.762+26_762+28del	ENSP00000516600.1:n.762+26_762+28del
ENST00000706885.1:c.1839+26_1839+28del	ENSP00000516601.1:n.1839+26_1839+28del
ENST00000684568.2:c.1974+26_1974+28del MANE Select	ENSP00000506999.1:n.1974+26_1974+28del
ENST00000370331.5:c.1926+26_1926+28del	ENSP00000359356.1:n.1926+26_1926+28del
ENST00000491940.5:n.779+26_779+28del
ENST00000492513.5:n.473_475del
ENST00000540033.2:c.1959+26_1959+28del	ENSP00000440826.2:n.1959+26_1959+28del
NM_001308248.1:c.1959+26_1959+28del	NP_001295177.1:n.1959+26_1959+28del
NM_005665.4:c.1926+26_1926+28del	NP_005656.4:n.1926+26_1926+28del
NM_005665.5:c.1926+26_1926+28del	NP_005656.4:n.1926+26_1926+28del
XM_011542099.1:c.2178+26_2178+28del	XP_011540401.1:n.2178+26_2178+28del
XM_011542100.1:c.2178+26_2178+28del	XP_011540402.1:n.2178+26_2178+28del
XM_011542101.1:c.2055+26_2055+28del	XP_011540403.1:n.2055+26_2055+28del
XM_011542102.1:c.2031+26_2031+28del	XP_011540404.1:n.2031+26_2031+28del
XM_011542103.1:c.2032-2153_2032-2151del	XP_011540405.1:n.2032-2153_2032-2151del
XM_011542104.1:c.2019+26_2019+28del	XP_011540406.1:n.2019+26_2019+28del
XM_011542105.1:c.1998+26_1998+28del	XP_011540407.1:n.1998+26_1998+28del
XM_011542107.1:c.1926+26_1926+28del	XP_011540409.1:n.1926+26_1926+28del
XM_011542108.1:c.2178+26_2178+28del	XP_011540410.1:n.2178+26_2178+28del
XM_011542109.1:c.2178+26_2178+28del	XP_011540411.1:n.2178+26_2178+28del
NM_001350197.1:c.1974+26_1974+28del	NP_001337126.1:n.1974+26_1974+28del
NM_001350198.1:c.1974+26_1974+28del	NP_001337127.1:n.1974+26_1974+28del
XM_017002269.1:c.2187+26_2187+28del	XP_016857758.1:n.2187+26_2187+28del
XM_017002270.2:c.2178+26_2178+28del	XP_016857759.1:n.2178+26_2178+28del
XM_017002271.2:c.2106+26_2106+28del	XP_016857760.1:n.2106+26_2106+28del
XM_017002272.1:c.2187+26_2187+28del	XP_016857761.1:n.2187+26_2187+28del
XM_017002273.2:c.2055+26_2055+28del	XP_016857762.1:n.2055+26_2055+28del
XM_017002274.1:c.2055+26_2055+28del	XP_016857763.1:n.2055+26_2055+28del
XM_017002275.1:c.2055+26_2055+28del	XP_016857764.1:n.2055+26_2055+28del
XM_017002276.2:c.1974+26_1974+28del	XP_016857765.1:n.1974+26_1974+28del
XM_017002277.1:c.1959+26_1959+28del	XP_016857766.1:n.1959+26_1959+28del
XM_017002278.1:c.2040+26_2040+28del	XP_016857767.1:n.2040+26_2040+28del
XM_017002279.1:c.1920+26_1920+28del	XP_016857768.1:n.1920+26_1920+28del
XM_017002281.2:c.1950+26_1950+28del	XP_016857770.1:n.1950+26_1950+28del
XM_017002282.1:c.2187+26_2187+28del	XP_016857771.1:n.2187+26_2187+28del
XM_017002283.1:c.2106+26_2106+28del	XP_016857772.1:n.2106+26_2106+28del
XM_017002284.2:c.1827+26_1827+28del	XP_016857773.1:n.1827+26_1827+28del
XM_017002286.2:c.1563+26_1563+28del	XP_016857775.1:n.1563+26_1563+28del
XM_017002287.2:c.1563+26_1563+28del	XP_016857776.1:n.1563+26_1563+28del
XM_017002288.1:c.1563+26_1563+28del	XP_016857777.1:n.1563+26_1563+28del
XM_024449686.1:c.2106+26_2106+28del	XP_024305454.1:n.2106+26_2106+28del
XM_024449689.1:c.2007+26_2007+28del	XP_024305457.1:n.2007+26_2007+28del
XM_024449690.1:c.1839+26_1839+28del	XP_024305458.1:n.1839+26_1839+28del
NM_001308248.2:c.1959+26_1959+28del	NP_001295177.1:n.1959+26_1959+28del
NM_001350197.2:c.1974+26_1974+28del MANE Select	NP_001337126.1:n.1974+26_1974+28del
NM_001350198.2:c.1974+26_1974+28del	NP_001337127.1:n.1974+26_1974+28del
NM_001377210.1:c.1950+26_1950+28del	NP_001364139.1:n.1950+26_1950+28del
NM_001377211.1:c.1932+26_1932+28del	NP_001364140.1:n.1932+26_1932+28del
NM_001377212.1:c.1827+26_1827+28del	NP_001364141.1:n.1827+26_1827+28del
NM_001377213.1:c.2055+26_2055+28del	NP_001364142.1:n.2055+26_2055+28del
NM_005665.6:c.1926+26_1926+28del	NP_005656.4:n.1926+26_1926+28del