Canonical Allele Identifier: CA1139658817

Gene: CPLANE1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37115026dup , CM000667.2:g.37115026dup	GRCh38
NC_000005.9:g.37115128dup , CM000667.1:g.37115128dup	GRCh37
NC_000005.8:g.37150885dup	NCBI36
NG_032772.1:g.139408dup
NG_032772.2:g.139408dup

Transcript Alleles

HGVS	Amino-acid Change
NM_001384732.1:c.9339dup MANE Select	NP_001371661.1:p.Ala3114SerfsTer23
ENST00000651892.2:c.9339dup MANE Select	ENSP00000498265.2:p.Ala3114SerfsTer23
NM_023073.3:c.9177dup	NP_075561.3:p.Ala3060SerfsTer23
NM_023073.4:c.9177dup	NP_075561.3:p.Ala3060SerfsTer23
ENST00000425232.6:c.9177dup	ENSP00000389014.2:p.Ala3060SerfsTer23
ENST00000508244.5:c.9177dup	ENSP00000421690.1:p.Ala3060SerfsTer23
ENST00000509849.5:c.6351dup	ENSP00000426337.1:n.6351dup
ENST00000514429.5:c.6375dup	ENSP00000424223.1:p.Ala2126SerfsTer23
ENST00000676160.1:n.1845dup
XM_005248345.2:c.9339dup	XP_005248402.1:p.Ala3114SerfsTer23
XM_005248345.4:c.9339dup	XP_005248402.1:p.Ala3114SerfsTer23
XM_005248346.2:c.9336dup	XP_005248403.1:p.Ala3113SerfsTer23
XM_005248346.4:c.9336dup	XP_005248403.1:p.Ala3113SerfsTer23
XM_005248347.2:c.9336dup	XP_005248404.1:p.Ala3113SerfsTer23
XM_005248347.4:c.9336dup	XP_005248404.1:p.Ala3113SerfsTer23
XM_005248349.2:c.9228dup	XP_005248406.1:p.Ala3077SerfsTer23
XM_005248349.4:c.9228dup	XP_005248406.1:p.Ala3077SerfsTer23
XM_005248350.2:c.9210dup	XP_005248407.1:p.Ala3071SerfsTer23
XM_005248350.4:c.9210dup	XP_005248407.1:p.Ala3071SerfsTer23
XM_005248353.3:c.5982dup	XP_005248410.1:p.Ala1995SerfsTer23
XM_006714489.2:c.9339dup	XP_006714552.1:p.Ala3114SerfsTer23
XM_006714491.2:c.3912dup	XP_006714554.1:p.Ala1305SerfsTer23
XM_006714491.3:c.3912dup	XP_006714554.1:p.Ala1305SerfsTer23
XM_011514085.1:c.9339dup	XP_011512387.1:p.Ala3114SerfsTer23
XM_011514085.3:c.9339dup	XP_011512387.1:p.Ala3114SerfsTer23
XM_011514086.1:c.9339dup	XP_011512388.1:p.Ala3114SerfsTer23
XM_011514086.3:c.9339dup	XP_011512388.1:p.Ala3114SerfsTer23
XM_011514087.1:c.9285dup	XP_011512389.1:p.Ala3096SerfsTer23
XM_011514087.2:c.9285dup	XP_011512389.1:p.Ala3096SerfsTer23
XM_011514088.1:c.9231dup	XP_011512390.1:p.Ala3078SerfsTer23
XM_011514088.2:c.9231dup	XP_011512390.1:p.Ala3078SerfsTer23
XM_011514089.1:c.9339dup	XP_011512391.1:p.Ala3114SerfsTer23
XM_011514089.2:c.9339dup	XP_011512391.1:p.Ala3114SerfsTer23
XM_011514090.1:c.9021dup	XP_011512392.1:p.Ala3008SerfsTer23
XM_011514090.3:c.9021dup	XP_011512392.1:p.Ala3008SerfsTer23
XM_011514091.1:c.8667dup	XP_011512393.1:p.Ala2890SerfsTer23
XM_011514094.1:c.6564dup	XP_011512396.1:p.Ala2189SerfsTer23
XM_011514094.2:c.6564dup	XP_011512396.1:p.Ala2189SerfsTer23
XM_017009760.1:c.9150dup	XP_016865249.1:p.Ala3051SerfsTer23
XM_017009761.2:c.9150dup	XP_016865250.1:p.Ala3051SerfsTer23
XM_017009763.1:c.8346dup	XP_016865252.1:p.Ala2783SerfsTer23
XM_017009765.1:c.8151dup	XP_016865254.1:p.Ala2718SerfsTer23
XM_017009766.1:c.5982dup	XP_016865255.1:p.Ala1995SerfsTer23
XM_024446183.1:c.9150dup	XP_024301951.1:p.Ala3051SerfsTer23
XM_024446184.1:c.9021dup	XP_024301952.1:p.Ala3008SerfsTer23
XM_024446185.1:c.8667dup	XP_024301953.1:p.Ala2890SerfsTer23
XM_024446186.1:c.8346dup	XP_024301954.1:p.Ala2783SerfsTer23
XR_427661.2:n.9514dup
XR_925644.1:n.9514dup
XR_925644.2:n.9563dup