Canonical Allele Identifier: CA951675

Gene: EVI5

Linked Data

• dbSNP Id: rs760791398
• ExAC: 1:93073118 CAGTT / C
• gnomAD v2: 1-93073118-CAGTT-C
• gnomAD v3: 1-92607561-CAGTT-C
• gnomAD v4: 1-92607561-CAGTT-C
• MyVariant Identifiers: chr1:g.93073119_93073122del (hg19) ; chr1:g.92607562_92607565del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.92607566_92607569del , CM000663.2:g.92607566_92607569del	GRCh38
NC_000001.10:g.93073123_93073126del , CM000663.1:g.93073123_93073126del	GRCh37
NC_000001.9:g.92845711_92845714del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000540033.3:c.1959+16_1959+19del	ENSP00000440826.2:n.1959+16_1959+19del
ENST00000706843.1:c.1950+16_1950+19del	ENSP00000516584.1:n.1950+16_1950+19del
ENST00000706845.1:c.*1807+16_*1807+19del	ENSP00000516587.1:n.*1807+16_*1807+19del
ENST00000706846.1:c.1974+16_1974+19del	ENSP00000516588.1:n.1974+16_1974+19del
ENST00000706867.1:c.2055+16_2055+19del	ENSP00000516594.1:n.2055+16_2055+19del
ENST00000706868.1:c.1974+16_1974+19del	ENSP00000516595.1:n.1974+16_1974+19del
ENST00000706869.1:n.310-3766_310-3763del
ENST00000706883.1:c.762+16_762+19del	ENSP00000516600.1:n.762+16_762+19del
ENST00000706885.1:c.1839+16_1839+19del	ENSP00000516601.1:n.1839+16_1839+19del
ENST00000684568.2:c.1974+16_1974+19del MANE Select	ENSP00000506999.1:n.1974+16_1974+19del
ENST00000370331.5:c.1926+16_1926+19del	ENSP00000359356.1:n.1926+16_1926+19del
ENST00000491940.5:n.779+16_779+19del
ENST00000492513.5:n.463_466del
ENST00000540033.2:c.1959+16_1959+19del	ENSP00000440826.2:n.1959+16_1959+19del
NM_001308248.1:c.1959+16_1959+19del	NP_001295177.1:n.1959+16_1959+19del
NM_005665.4:c.1926+16_1926+19del	NP_005656.4:n.1926+16_1926+19del
NM_005665.5:c.1926+16_1926+19del	NP_005656.4:n.1926+16_1926+19del
XM_011542099.1:c.2178+16_2178+19del	XP_011540401.1:n.2178+16_2178+19del
XM_011542100.1:c.2178+16_2178+19del	XP_011540402.1:n.2178+16_2178+19del
XM_011542101.1:c.2055+16_2055+19del	XP_011540403.1:n.2055+16_2055+19del
XM_011542102.1:c.2031+16_2031+19del	XP_011540404.1:n.2031+16_2031+19del
XM_011542103.1:c.2032-2163_2032-2160del	XP_011540405.1:n.2032-2163_2032-2160del
XM_011542104.1:c.2019+16_2019+19del	XP_011540406.1:n.2019+16_2019+19del
XM_011542105.1:c.1998+16_1998+19del	XP_011540407.1:n.1998+16_1998+19del
XM_011542107.1:c.1926+16_1926+19del	XP_011540409.1:n.1926+16_1926+19del
XM_011542108.1:c.2178+16_2178+19del	XP_011540410.1:n.2178+16_2178+19del
XM_011542109.1:c.2178+16_2178+19del	XP_011540411.1:n.2178+16_2178+19del
NM_001350197.1:c.1974+16_1974+19del	NP_001337126.1:n.1974+16_1974+19del
NM_001350198.1:c.1974+16_1974+19del	NP_001337127.1:n.1974+16_1974+19del
XM_017002269.1:c.2187+16_2187+19del	XP_016857758.1:n.2187+16_2187+19del
XM_017002270.2:c.2178+16_2178+19del	XP_016857759.1:n.2178+16_2178+19del
XM_017002271.2:c.2106+16_2106+19del	XP_016857760.1:n.2106+16_2106+19del
XM_017002272.1:c.2187+16_2187+19del	XP_016857761.1:n.2187+16_2187+19del
XM_017002273.2:c.2055+16_2055+19del	XP_016857762.1:n.2055+16_2055+19del
XM_017002274.1:c.2055+16_2055+19del	XP_016857763.1:n.2055+16_2055+19del
XM_017002275.1:c.2055+16_2055+19del	XP_016857764.1:n.2055+16_2055+19del
XM_017002276.2:c.1974+16_1974+19del	XP_016857765.1:n.1974+16_1974+19del
XM_017002277.1:c.1959+16_1959+19del	XP_016857766.1:n.1959+16_1959+19del
XM_017002278.1:c.2040+16_2040+19del	XP_016857767.1:n.2040+16_2040+19del
XM_017002279.1:c.1920+16_1920+19del	XP_016857768.1:n.1920+16_1920+19del
XM_017002281.2:c.1950+16_1950+19del	XP_016857770.1:n.1950+16_1950+19del
XM_017002282.1:c.2187+16_2187+19del	XP_016857771.1:n.2187+16_2187+19del
XM_017002283.1:c.2106+16_2106+19del	XP_016857772.1:n.2106+16_2106+19del
XM_017002284.2:c.1827+16_1827+19del	XP_016857773.1:n.1827+16_1827+19del
XM_017002286.2:c.1563+16_1563+19del	XP_016857775.1:n.1563+16_1563+19del
XM_017002287.2:c.1563+16_1563+19del	XP_016857776.1:n.1563+16_1563+19del
XM_017002288.1:c.1563+16_1563+19del	XP_016857777.1:n.1563+16_1563+19del
XM_024449686.1:c.2106+16_2106+19del	XP_024305454.1:n.2106+16_2106+19del
XM_024449689.1:c.2007+16_2007+19del	XP_024305457.1:n.2007+16_2007+19del
XM_024449690.1:c.1839+16_1839+19del	XP_024305458.1:n.1839+16_1839+19del
NM_001308248.2:c.1959+16_1959+19del	NP_001295177.1:n.1959+16_1959+19del
NM_001350197.2:c.1974+16_1974+19del MANE Select	NP_001337126.1:n.1974+16_1974+19del
NM_001350198.2:c.1974+16_1974+19del	NP_001337127.1:n.1974+16_1974+19del
NM_001377210.1:c.1950+16_1950+19del	NP_001364139.1:n.1950+16_1950+19del
NM_001377211.1:c.1932+16_1932+19del	NP_001364140.1:n.1932+16_1932+19del
NM_001377212.1:c.1827+16_1827+19del	NP_001364141.1:n.1827+16_1827+19del
NM_001377213.1:c.2055+16_2055+19del	NP_001364142.1:n.2055+16_2055+19del
NM_005665.6:c.1926+16_1926+19del	NP_005656.4:n.1926+16_1926+19del