Canonical Allele Identifier: CA16618205
Gene: CPLANE1 HGNC NCBI

Linked Data

ClinVar Variation Id: 422968
ClinVar RCV Id: RCV000478868
dbSNP Id: rs1064796131

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.37138834_37138840delinsAT , CM000667.2:g.37138834_37138840delinsAT GRCh38
NC_000005.9:g.37138936_37138942delinsAT , CM000667.1:g.37138936_37138942delinsAT GRCh37
NC_000005.8:g.37174693_37174699delinsAT NCBI36
NG_032772.1:g.115589_115595delinsAT
NG_032772.2:g.115589_115595delinsAT

Transcript Alleles

HGVS Amino-acid change
ENST00000510830.2:n.1671_1677delinsAT
ENST00000651892.2:c.8672_8678delinsAT MANE Select ENSP00000498265.2:p.Val2891AspfsTer9
ENST00000425232.6:c.8510_8516delinsAT ENSP00000389014.2:p.Val2837AspfsTer9
ENST00000504716.1:n.257_263delinsAT
ENST00000505121.1:n.372_378delinsAT
ENST00000508244.5:c.8510_8516delinsAT ENSP00000421690.1:p.Val2837AspfsTer9
ENST00000508405.1:n.373_379delinsAT
ENST00000509849.5:c.5653_5659delinsAT ENSP00000426337.1:p.Tyr1885MetfsTer?
ENST00000509957.5:n.3853_3859delinsAT
ENST00000512288.5:n.221_227delinsAT
ENST00000514429.5:c.5708_5714delinsAT ENSP00000424223.1:p.Val1903AspfsTer9
NM_023073.3:c.8510_8516delinsAT NP_075561.3:p.Val2837AspfsTer9
XM_005248345.2:c.8672_8678delinsAT XP_005248402.1:p.Val2891AspfsTer9
XM_005248346.2:c.8669_8675delinsAT XP_005248403.1:p.Val2890AspfsTer9
XM_005248347.2:c.8669_8675delinsAT XP_005248404.1:p.Val2890AspfsTer9
XM_005248349.2:c.8561_8567delinsAT XP_005248406.1:p.Val2854AspfsTer9
XM_005248350.2:c.8543_8549delinsAT XP_005248407.1:p.Val2848AspfsTer9
XM_005248353.3:c.5315_5321delinsAT XP_005248410.1:p.Val1772AspfsTer9
XM_006714489.2:c.8672_8678delinsAT XP_006714552.1:p.Val2891AspfsTer9
XM_006714491.2:c.3245_3251delinsAT XP_006714554.1:p.Val1082AspfsTer9
XM_011514085.1:c.8672_8678delinsAT XP_011512387.1:p.Val2891AspfsTer9
XM_011514086.1:c.8672_8678delinsAT XP_011512388.1:p.Val2891AspfsTer9
XM_011514087.1:c.8618_8624delinsAT XP_011512389.1:p.Val2873AspfsTer9
XM_011514088.1:c.8564_8570delinsAT XP_011512390.1:p.Val2855AspfsTer9
XM_011514089.1:c.8672_8678delinsAT XP_011512391.1:p.Val2891AspfsTer9
XM_011514090.1:c.8354_8360delinsAT XP_011512392.1:p.Val2785AspfsTer9
XM_011514091.1:c.8000_8006delinsAT XP_011512393.1:p.Val2667AspfsTer9
XM_011514092.1:c.8672_8678delinsAT XP_011512394.1:p.Val2891AspfsTer9
XM_011514094.1:c.5897_5903delinsAT XP_011512396.1:p.Val1966AspfsTer9
XR_427661.2:n.8847_8853delinsAT
XR_925644.1:n.8847_8853delinsAT
XM_005248345.4:c.8672_8678delinsAT XP_005248402.1:p.Val2891AspfsTer9
XM_005248346.4:c.8669_8675delinsAT XP_005248403.1:p.Val2890AspfsTer9
XM_005248347.4:c.8669_8675delinsAT XP_005248404.1:p.Val2890AspfsTer9
XM_005248349.4:c.8561_8567delinsAT XP_005248406.1:p.Val2854AspfsTer9
XM_005248350.4:c.8543_8549delinsAT XP_005248407.1:p.Val2848AspfsTer9
XM_006714491.3:c.3245_3251delinsAT XP_006714554.1:p.Val1082AspfsTer9
XM_011514085.3:c.8672_8678delinsAT XP_011512387.1:p.Val2891AspfsTer9
XM_011514086.3:c.8672_8678delinsAT XP_011512388.1:p.Val2891AspfsTer9
XM_011514087.2:c.8618_8624delinsAT XP_011512389.1:p.Val2873AspfsTer9
XM_011514088.2:c.8564_8570delinsAT XP_011512390.1:p.Val2855AspfsTer9
XM_011514089.2:c.8672_8678delinsAT XP_011512391.1:p.Val2891AspfsTer9
XM_011514090.3:c.8354_8360delinsAT XP_011512392.1:p.Val2785AspfsTer9
XM_011514092.2:c.8672_8678delinsAT XP_011512394.1:p.Val2891AspfsTer9
XM_011514094.2:c.5897_5903delinsAT XP_011512396.1:p.Val1966AspfsTer9
XM_017009760.1:c.8483_8489delinsAT XP_016865249.1:p.Val2828AspfsTer9
XM_017009761.2:c.8483_8489delinsAT XP_016865250.1:p.Val2828AspfsTer9
XM_017009763.1:c.7679_7685delinsAT XP_016865252.1:p.Val2560AspfsTer9
XM_017009765.1:c.7484_7490delinsAT XP_016865254.1:p.Val2495AspfsTer9
XM_017009766.1:c.5315_5321delinsAT XP_016865255.1:p.Val1772AspfsTer9
XM_024446183.1:c.8483_8489delinsAT XP_024301951.1:p.Val2828AspfsTer9
XM_024446184.1:c.8354_8360delinsAT XP_024301952.1:p.Val2785AspfsTer9
XM_024446185.1:c.8000_8006delinsAT XP_024301953.1:p.Val2667AspfsTer9
XM_024446186.1:c.7679_7685delinsAT XP_024301954.1:p.Val2560AspfsTer9
XR_001742208.1:n.8841_8847delinsAT
XR_925644.2:n.8896_8902delinsAT
NM_001384732.1:c.8672_8678delinsAT MANE Select NP_001371661.1:p.Val2891AspfsTer9
NM_023073.4:c.8510_8516delinsAT NP_075561.3:p.Val2837AspfsTer9