Canonical Allele Identifier: CA2673584238

Gene: CPLANE1

Linked Data

• gnomAD v4: 5-37153831-AT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37153835del , CM000667.2:g.37153835del	GRCh38
NC_000005.9:g.37153937del , CM000667.1:g.37153937del	GRCh37
NC_000005.8:g.37189694del	NCBI36
NG_032772.1:g.100597del
NG_032772.2:g.100597del

Transcript Alleles

HGVS	Amino-acid change
ENST00000510830.2:n.1280del
ENST00000651892.2:c.8281del MANE Select	ENSP00000498265.2:p.Ile2761LeufsTer6
ENST00000425232.6:c.8119del	ENSP00000389014.2:p.Ile2707LeufsTer6
ENST00000508244.5:c.8119del	ENSP00000421690.1:p.Ile2707LeufsTer6
ENST00000508405.1:n.13del
ENST00000509849.5:c.5293del	ENSP00000426337.1:p.Ile1765LeufsTer6
ENST00000509957.5:n.523del
ENST00000511824.2:c.1395del
ENST00000514429.5:c.5317del	ENSP00000424223.1:p.Ile1773LeufsTer6
NM_023073.3:c.8119del	NP_075561.3:p.Ile2707LeufsTer6
XM_005248345.2:c.8281del	XP_005248402.1:p.Ile2761LeufsTer6
XM_005248346.2:c.8278del	XP_005248403.1:p.Ile2760LeufsTer6
XM_005248347.2:c.8278del	XP_005248404.1:p.Ile2760LeufsTer6
XM_005248349.2:c.8170del	XP_005248406.1:p.Ile2724LeufsTer6
XM_005248350.2:c.8152del	XP_005248407.1:p.Ile2718LeufsTer6
XM_005248353.3:c.4924del	XP_005248410.1:p.Ile1642LeufsTer6
XM_006714489.2:c.8281del	XP_006714552.1:p.Ile2761LeufsTer6
XM_006714491.2:c.2854del	XP_006714554.1:p.Ile952LeufsTer6
XM_011514085.1:c.8281del	XP_011512387.1:p.Ile2761LeufsTer6
XM_011514086.1:c.8281del	XP_011512388.1:p.Ile2761LeufsTer6
XM_011514087.1:c.8227del	XP_011512389.1:p.Ile2743LeufsTer6
XM_011514088.1:c.8173del	XP_011512390.1:p.Ile2725LeufsTer6
XM_011514089.1:c.8281del	XP_011512391.1:p.Ile2761LeufsTer6
XM_011514090.1:c.7963del	XP_011512392.1:p.Ile2655LeufsTer6
XM_011514091.1:c.7609del	XP_011512393.1:p.Ile2537LeufsTer6
XM_011514092.1:c.8281del	XP_011512394.1:p.Ile2761LeufsTer6
XM_011514094.1:c.5506del	XP_011512396.1:p.Ile1836LeufsTer6
XR_427661.2:n.8456del
XR_925644.1:n.8456del
XM_005248345.4:c.8281del	XP_005248402.1:p.Ile2761LeufsTer6
XM_005248346.4:c.8278del	XP_005248403.1:p.Ile2760LeufsTer6
XM_005248347.4:c.8278del	XP_005248404.1:p.Ile2760LeufsTer6
XM_005248349.4:c.8170del	XP_005248406.1:p.Ile2724LeufsTer6
XM_005248350.4:c.8152del	XP_005248407.1:p.Ile2718LeufsTer6
XM_006714491.3:c.2854del	XP_006714554.1:p.Ile952LeufsTer6
XM_011514085.3:c.8281del	XP_011512387.1:p.Ile2761LeufsTer6
XM_011514086.3:c.8281del	XP_011512388.1:p.Ile2761LeufsTer6
XM_011514087.2:c.8227del	XP_011512389.1:p.Ile2743LeufsTer6
XM_011514088.2:c.8173del	XP_011512390.1:p.Ile2725LeufsTer6
XM_011514089.2:c.8281del	XP_011512391.1:p.Ile2761LeufsTer6
XM_011514090.3:c.7963del	XP_011512392.1:p.Ile2655LeufsTer6
XM_011514092.2:c.8281del	XP_011512394.1:p.Ile2761LeufsTer6
XM_011514094.2:c.5506del	XP_011512396.1:p.Ile1836LeufsTer6
XM_017009760.1:c.8092del	XP_016865249.1:p.Ile2698LeufsTer6
XM_017009761.2:c.8092del	XP_016865250.1:p.Ile2698LeufsTer6
XM_017009763.1:c.7288del	XP_016865252.1:p.Ile2430LeufsTer6
XM_017009765.1:c.7093del	XP_016865254.1:p.Ile2365LeufsTer6
XM_017009766.1:c.4924del	XP_016865255.1:p.Ile1642LeufsTer6
XM_024446183.1:c.8092del	XP_024301951.1:p.Ile2698LeufsTer6
XM_024446184.1:c.7963del	XP_024301952.1:p.Ile2655LeufsTer6
XM_024446185.1:c.7609del	XP_024301953.1:p.Ile2537LeufsTer6
XM_024446186.1:c.7288del	XP_024301954.1:p.Ile2430LeufsTer6
XR_001742208.1:n.8450del
XR_002956171.1:n.8396del
XR_925644.2:n.8505del
NM_001384732.1:c.8281del MANE Select	NP_001371661.1:p.Ile2761LeufsTer6
NM_023073.4:c.8119del	NP_075561.3:p.Ile2707LeufsTer6