Canonical Allele Identifier: CA645544875

Gene: CPLANE1

Linked Data - Expert Curation

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37148223del , CM000667.2:g.37148223del	GRCh38
NC_000005.9:g.37148325del , CM000667.1:g.37148325del	GRCh37
NC_000005.8:g.37184082del	NCBI36
NG_032772.1:g.106212del
NG_032772.2:g.106212del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000510830.2:n.1424del
ENST00000651892.2:c.8425del MANE Select	ENSP00000498265.2:p.Thr2809HisfsTer2
ENST00000425232.6:c.8263del	ENSP00000389014.2:p.Thr2755HisfsTer2
ENST00000508244.5:c.8263del	ENSP00000421690.1:p.Thr2755HisfsTer2
ENST00000508405.1:n.157del
ENST00000509849.5:c.5437del	ENSP00000426337.1:p.Thr1813HisfsTer2
ENST00000509957.5:n.667del
ENST00000514429.5:c.5461del	ENSP00000424223.1:p.Thr1821HisfsTer2
NM_023073.3:c.8263del	NP_075561.3:p.Thr2755HisfsTer2
XM_005248345.2:c.8425del	XP_005248402.1:p.Thr2809HisfsTer2
XM_005248346.2:c.8422del	XP_005248403.1:p.Thr2808HisfsTer2
XM_005248347.2:c.8422del	XP_005248404.1:p.Thr2808HisfsTer2
XM_005248349.2:c.8314del	XP_005248406.1:p.Thr2772HisfsTer2
XM_005248350.2:c.8296del	XP_005248407.1:p.Thr2766HisfsTer2
XM_005248353.3:c.5068del	XP_005248410.1:p.Thr1690HisfsTer2
XM_006714489.2:c.8425del	XP_006714552.1:p.Thr2809HisfsTer2
XM_006714491.2:c.2998del	XP_006714554.1:p.Thr1000HisfsTer2
XM_011514085.1:c.8425del	XP_011512387.1:p.Thr2809HisfsTer2
XM_011514086.1:c.8425del	XP_011512388.1:p.Thr2809HisfsTer2
XM_011514087.1:c.8371del	XP_011512389.1:p.Thr2791HisfsTer2
XM_011514088.1:c.8317del	XP_011512390.1:p.Thr2773HisfsTer2
XM_011514089.1:c.8425del	XP_011512391.1:p.Thr2809HisfsTer2
XM_011514090.1:c.8107del	XP_011512392.1:p.Thr2703HisfsTer2
XM_011514091.1:c.7753del	XP_011512393.1:p.Thr2585HisfsTer2
XM_011514092.1:c.8425del	XP_011512394.1:p.Thr2809HisfsTer2
XM_011514094.1:c.5650del	XP_011512396.1:p.Thr1884HisfsTer2
XR_427661.2:n.8600del
XR_925644.1:n.8600del
XM_005248345.4:c.8425del	XP_005248402.1:p.Thr2809HisfsTer2
XM_005248346.4:c.8422del	XP_005248403.1:p.Thr2808HisfsTer2
XM_005248347.4:c.8422del	XP_005248404.1:p.Thr2808HisfsTer2
XM_005248349.4:c.8314del	XP_005248406.1:p.Thr2772HisfsTer2
XM_005248350.4:c.8296del	XP_005248407.1:p.Thr2766HisfsTer2
XM_006714491.3:c.2998del	XP_006714554.1:p.Thr1000HisfsTer2
XM_011514085.3:c.8425del	XP_011512387.1:p.Thr2809HisfsTer2
XM_011514086.3:c.8425del	XP_011512388.1:p.Thr2809HisfsTer2
XM_011514087.2:c.8371del	XP_011512389.1:p.Thr2791HisfsTer2
XM_011514088.2:c.8317del	XP_011512390.1:p.Thr2773HisfsTer2
XM_011514089.2:c.8425del	XP_011512391.1:p.Thr2809HisfsTer2
XM_011514090.3:c.8107del	XP_011512392.1:p.Thr2703HisfsTer2
XM_011514092.2:c.8425del	XP_011512394.1:p.Thr2809HisfsTer2
XM_011514094.2:c.5650del	XP_011512396.1:p.Thr1884HisfsTer2
XM_017009760.1:c.8236del	XP_016865249.1:p.Thr2746HisfsTer2
XM_017009761.2:c.8236del	XP_016865250.1:p.Thr2746HisfsTer2
XM_017009763.1:c.7432del	XP_016865252.1:p.Thr2478HisfsTer2
XM_017009765.1:c.7237del	XP_016865254.1:p.Thr2413HisfsTer2
XM_017009766.1:c.5068del	XP_016865255.1:p.Thr1690HisfsTer2
XM_024446183.1:c.8236del	XP_024301951.1:p.Thr2746HisfsTer2
XM_024446184.1:c.8107del	XP_024301952.1:p.Thr2703HisfsTer2
XM_024446185.1:c.7753del	XP_024301953.1:p.Thr2585HisfsTer2
XM_024446186.1:c.7432del	XP_024301954.1:p.Thr2478HisfsTer2
XR_001742208.1:n.8594del
XR_002956171.1:n.8540del
XR_925644.2:n.8649del
NM_001384732.1:c.8425del MANE Select	NP_001371661.1:p.Thr2809HisfsTer2
NM_023073.4:c.8263del	NP_075561.3:p.Thr2755HisfsTer2