Canonical Allele Identifier: CA524599623

Gene: EVI5

Linked Data

• dbSNP Id: rs1457413652
• gnomAD v2: 1-93073366-TAAC-T
• gnomAD v3: 1-92607809-TAAC-T
• gnomAD v4: 1-92607809-TAAC-T
• MyVariant Identifiers: chr1:g.93073367_93073369del (hg19) ; chr1:g.92607810_92607812del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.92607811_92607813del , CM000663.2:g.92607811_92607813del	GRCh38
NC_000001.10:g.93073368_93073370del , CM000663.1:g.93073368_93073370del	GRCh37
NC_000001.9:g.92845956_92845958del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000540033.3:c.1813-85_1813-83del	ENSP00000440826.2:n.1813-85_1813-83del
ENST00000706843.1:c.1804-85_1804-83del	ENSP00000516584.1:n.1804-85_1804-83del
ENST00000706845.1:c.*1661-85_*1661-83del	ENSP00000516587.1:n.*1661-85_*1661-83del
ENST00000706846.1:c.1828-85_1828-83del	ENSP00000516588.1:n.1828-85_1828-83del
ENST00000706867.1:c.1909-85_1909-83del	ENSP00000516594.1:n.1909-85_1909-83del
ENST00000706868.1:c.1828-85_1828-83del	ENSP00000516595.1:n.1828-85_1828-83del
ENST00000706869.1:n.310-4013_310-4011del
ENST00000706883.1:c.616-85_616-83del	ENSP00000516600.1:n.616-85_616-83del
ENST00000706885.1:c.1693-85_1693-83del	ENSP00000516601.1:n.1693-85_1693-83del
ENST00000684568.2:c.1828-85_1828-83del MANE Select	ENSP00000506999.1:n.1828-85_1828-83del
ENST00000370331.5:c.1780-85_1780-83del	ENSP00000359356.1:n.1780-85_1780-83del
ENST00000468580.5:n.543-85_543-83del
ENST00000491940.5:n.633-85_633-83del
ENST00000492513.5:n.301-85_301-83del
ENST00000540033.2:c.1813-85_1813-83del	ENSP00000440826.2:n.1813-85_1813-83del
NM_001308248.1:c.1813-85_1813-83del	NP_001295177.1:n.1813-85_1813-83del
NM_005665.4:c.1780-85_1780-83del	NP_005656.4:n.1780-85_1780-83del
NM_005665.5:c.1780-85_1780-83del	NP_005656.4:n.1780-85_1780-83del
XM_011542099.1:c.2032-85_2032-83del	XP_011540401.1:n.2032-85_2032-83del
XM_011542100.1:c.2032-85_2032-83del	XP_011540402.1:n.2032-85_2032-83del
XM_011542101.1:c.1909-85_1909-83del	XP_011540403.1:n.1909-85_1909-83del
XM_011542102.1:c.1885-85_1885-83del	XP_011540404.1:n.1885-85_1885-83del
XM_011542103.1:c.2032-2410_2032-2408del	XP_011540405.1:n.2032-2410_2032-2408del
XM_011542104.1:c.1873-85_1873-83del	XP_011540406.1:n.1873-85_1873-83del
XM_011542105.1:c.1852-85_1852-83del	XP_011540407.1:n.1852-85_1852-83del
XM_011542107.1:c.1780-85_1780-83del	XP_011540409.1:n.1780-85_1780-83del
XM_011542108.1:c.2032-85_2032-83del	XP_011540410.1:n.2032-85_2032-83del
XM_011542109.1:c.2032-85_2032-83del	XP_011540411.1:n.2032-85_2032-83del
NM_001350197.1:c.1828-85_1828-83del	NP_001337126.1:n.1828-85_1828-83del
NM_001350198.1:c.1828-85_1828-83del	NP_001337127.1:n.1828-85_1828-83del
XM_017002269.1:c.2041-85_2041-83del	XP_016857758.1:n.2041-85_2041-83del
XM_017002270.2:c.2032-85_2032-83del	XP_016857759.1:n.2032-85_2032-83del
XM_017002271.2:c.1960-85_1960-83del	XP_016857760.1:n.1960-85_1960-83del
XM_017002272.1:c.2041-85_2041-83del	XP_016857761.1:n.2041-85_2041-83del
XM_017002273.2:c.1909-85_1909-83del	XP_016857762.1:n.1909-85_1909-83del
XM_017002274.1:c.1909-85_1909-83del	XP_016857763.1:n.1909-85_1909-83del
XM_017002275.1:c.1909-85_1909-83del	XP_016857764.1:n.1909-85_1909-83del
XM_017002276.2:c.1828-85_1828-83del	XP_016857765.1:n.1828-85_1828-83del
XM_017002277.1:c.1813-85_1813-83del	XP_016857766.1:n.1813-85_1813-83del
XM_017002278.1:c.1894-85_1894-83del	XP_016857767.1:n.1894-85_1894-83del
XM_017002279.1:c.1774-85_1774-83del	XP_016857768.1:n.1774-85_1774-83del
XM_017002281.2:c.1804-85_1804-83del	XP_016857770.1:n.1804-85_1804-83del
XM_017002282.1:c.2041-85_2041-83del	XP_016857771.1:n.2041-85_2041-83del
XM_017002283.1:c.1960-85_1960-83del	XP_016857772.1:n.1960-85_1960-83del
XM_017002284.2:c.1681-85_1681-83del	XP_016857773.1:n.1681-85_1681-83del
XM_017002286.2:c.1417-85_1417-83del	XP_016857775.1:n.1417-85_1417-83del
XM_017002287.2:c.1417-85_1417-83del	XP_016857776.1:n.1417-85_1417-83del
XM_017002288.1:c.1417-85_1417-83del	XP_016857777.1:n.1417-85_1417-83del
XM_024449686.1:c.1960-85_1960-83del	XP_024305454.1:n.1960-85_1960-83del
XM_024449689.1:c.1861-85_1861-83del	XP_024305457.1:n.1861-85_1861-83del
XM_024449690.1:c.1693-85_1693-83del	XP_024305458.1:n.1693-85_1693-83del
NM_001308248.2:c.1813-85_1813-83del	NP_001295177.1:n.1813-85_1813-83del
NM_001350197.2:c.1828-85_1828-83del MANE Select	NP_001337126.1:n.1828-85_1828-83del
NM_001350198.2:c.1828-85_1828-83del	NP_001337127.1:n.1828-85_1828-83del
NM_001377210.1:c.1804-85_1804-83del	NP_001364139.1:n.1804-85_1804-83del
NM_001377211.1:c.1786-85_1786-83del	NP_001364140.1:n.1786-85_1786-83del
NM_001377212.1:c.1681-85_1681-83del	NP_001364141.1:n.1681-85_1681-83del
NM_001377213.1:c.1909-85_1909-83del	NP_001364142.1:n.1909-85_1909-83del
NM_005665.6:c.1780-85_1780-83del	NP_005656.4:n.1780-85_1780-83del