Canonical Allele Identifier: CA2765914099
Gene: CPLANE1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.37153983_37153984insAG , CM000667.2:g.37153983_37153984insAG GRCh38
NC_000005.9:g.37154085_37154086insAG , CM000667.1:g.37154085_37154086insAG GRCh37
NC_000005.8:g.37189842_37189843insAG NCBI36
NG_032772.1:g.100445_100446insCT
NG_032772.2:g.100445_100446insCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000510830.2:n.1128_1129insCT
ENST00000651892.2:c.8129_8130insCT MANE Select ENSP00000498265.2:p.Lys2710AsnfsTer?
ENST00000425232.6:c.7967_7968insCT ENSP00000389014.2:p.Lys2656AsnfsTer?
ENST00000508244.5:c.7967_7968insCT ENSP00000421690.1:p.Lys2656AsnfsTer?
ENST00000509849.5:c.5141_5142insCT ENSP00000426337.1:p.Lys1714AsnfsTer?
ENST00000509957.5:n.371_372insCT
ENST00000511210.5:n.420_421insCT
ENST00000511824.2:c.1243_1244insCT
ENST00000514429.5:c.5165_5166insCT ENSP00000424223.1:p.Lys1722AsnfsTer?
ENST00000515380.1:n.381_382insCT
NM_023073.3:c.7967_7968insCT NP_075561.3:p.Lys2656AsnfsTer?
XM_005248345.2:c.8129_8130insCT XP_005248402.1:p.Lys2710AsnfsTer?
XM_005248346.2:c.8126_8127insCT XP_005248403.1:p.Lys2709AsnfsTer?
XM_005248347.2:c.8126_8127insCT XP_005248404.1:p.Lys2709AsnfsTer?
XM_005248349.2:c.8018_8019insCT XP_005248406.1:p.Lys2673AsnfsTer?
XM_005248350.2:c.8000_8001insCT XP_005248407.1:p.Lys2667AsnfsTer?
XM_005248353.3:c.4772_4773insCT XP_005248410.1:p.Lys1591AsnfsTer?
XM_006714489.2:c.8129_8130insCT XP_006714552.1:p.Lys2710AsnfsTer?
XM_006714491.2:c.2702_2703insCT XP_006714554.1:p.Lys901AsnfsTer?
XM_011514085.1:c.8129_8130insCT XP_011512387.1:p.Lys2710AsnfsTer?
XM_011514086.1:c.8129_8130insCT XP_011512388.1:p.Lys2710AsnfsTer?
XM_011514087.1:c.8075_8076insCT XP_011512389.1:p.Lys2692AsnfsTer?
XM_011514088.1:c.8021_8022insCT XP_011512390.1:p.Lys2674AsnfsTer?
XM_011514089.1:c.8129_8130insCT XP_011512391.1:p.Lys2710AsnfsTer?
XM_011514090.1:c.7811_7812insCT XP_011512392.1:p.Lys2604AsnfsTer?
XM_011514091.1:c.7457_7458insCT XP_011512393.1:p.Lys2486AsnfsTer?
XM_011514092.1:c.8129_8130insCT XP_011512394.1:p.Lys2710AsnfsTer?
XM_011514094.1:c.5354_5355insCT XP_011512396.1:p.Lys1785AsnfsTer?
XR_427661.2:n.8304_8305insCT
XR_925644.1:n.8304_8305insCT
XM_005248345.4:c.8129_8130insCT XP_005248402.1:p.Lys2710AsnfsTer?
XM_005248346.4:c.8126_8127insCT XP_005248403.1:p.Lys2709AsnfsTer?
XM_005248347.4:c.8126_8127insCT XP_005248404.1:p.Lys2709AsnfsTer?
XM_005248349.4:c.8018_8019insCT XP_005248406.1:p.Lys2673AsnfsTer?
XM_005248350.4:c.8000_8001insCT XP_005248407.1:p.Lys2667AsnfsTer?
XM_006714491.3:c.2702_2703insCT XP_006714554.1:p.Lys901AsnfsTer?
XM_011514085.3:c.8129_8130insCT XP_011512387.1:p.Lys2710AsnfsTer?
XM_011514086.3:c.8129_8130insCT XP_011512388.1:p.Lys2710AsnfsTer?
XM_011514087.2:c.8075_8076insCT XP_011512389.1:p.Lys2692AsnfsTer?
XM_011514088.2:c.8021_8022insCT XP_011512390.1:p.Lys2674AsnfsTer?
XM_011514089.2:c.8129_8130insCT XP_011512391.1:p.Lys2710AsnfsTer?
XM_011514090.3:c.7811_7812insCT XP_011512392.1:p.Lys2604AsnfsTer?
XM_011514092.2:c.8129_8130insCT XP_011512394.1:p.Lys2710AsnfsTer?
XM_011514094.2:c.5354_5355insCT XP_011512396.1:p.Lys1785AsnfsTer?
XM_017009760.1:c.7940_7941insCT XP_016865249.1:p.Lys2647AsnfsTer?
XM_017009761.2:c.7940_7941insCT XP_016865250.1:p.Lys2647AsnfsTer?
XM_017009763.1:c.7136_7137insCT XP_016865252.1:p.Lys2379AsnfsTer?
XM_017009765.1:c.6941_6942insCT XP_016865254.1:p.Lys2314AsnfsTer?
XM_017009766.1:c.4772_4773insCT XP_016865255.1:p.Lys1591AsnfsTer?
XM_024446183.1:c.7940_7941insCT XP_024301951.1:p.Lys2647AsnfsTer?
XM_024446184.1:c.7811_7812insCT XP_024301952.1:p.Lys2604AsnfsTer?
XM_024446185.1:c.7457_7458insCT XP_024301953.1:p.Lys2486AsnfsTer?
XM_024446186.1:c.7136_7137insCT XP_024301954.1:p.Lys2379AsnfsTer?
XR_001742208.1:n.8298_8299insCT
XR_002956171.1:n.8244_8245insCT
XR_925644.2:n.8353_8354insCT
NM_001384732.1:c.8129_8130insCT MANE Select NP_001371661.1:p.Lys2710AsnfsTer?
NM_023073.4:c.7967_7968insCT NP_075561.3:p.Lys2656AsnfsTer?