Canonical Allele Identifier: CA2580573342

Gene: CPLANE1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.[37198775G>A;37213624_37213625insAG] , CM000667.2:g.[37198775G>A;37213624_37213625insAG]	GRCh38
NC_000005.9:g.[37198877G>A;37213726_37213727insAG] , CM000667.1:g.[37198877G>A;37213726_37213727insAG]	GRCh37
NC_000005.8:g.[37234634G>A;37249483_37249484insAG]	NCBI36
NG_032772.1:g.[40804_40805insCT;55654C>T]
NG_032772.2:g.[40804_40805insCT;55654C>T]

Transcript Alleles

HGVS	Amino-acid Change
ENST00000425232.7:c.[2587_2588insCT;3103C>T]
ENST00000651892.2:c.[2854_2855insCT;3599C>T] MANE Select	ENSP00000498265.2:p.Asn952ThrfsTer13
ENST00000676290.1:n.[2929_2930insCT;3674C>T]
ENST00000425232.6:c.[2854_2855insCT;3599C>T]	ENSP00000389014.2:p.Asn952ThrfsTer13
ENST00000508244.5:c.[2854_2855insCT;3599C>T]	ENSP00000421690.1:p.Asn952ThrfsTer13
NM_023073.3:c.[2854_2855insCT;3599C>T]	NP_075561.3:p.Asn952ThrfsTer13
XM_005248345.2:c.[2854_2855insCT;3599C>T]	XP_005248402.1:p.Asn952ThrfsTer13
XM_005248346.2:c.[2854_2855insCT;3599C>T]	XP_005248403.1:p.Asn952ThrfsTer13
XM_005248347.2:c.[2854_2855insCT;3599C>T]	XP_005248404.1:p.Asn952ThrfsTer13
XM_005248349.2:c.[2854_2855insCT;3599C>T]	XP_005248406.1:p.Asn952ThrfsTer13
XM_005248350.2:c.[2854_2855insCT;3470C>T]	XP_005248407.1:p.Asn952ThrfsTer13
XM_006714489.2:c.[2854_2855insCT;3599C>T]	XP_006714552.1:p.Asn952ThrfsTer13
XM_011514085.1:c.[2854_2855insCT;3599C>T]	XP_011512387.1:p.Asn952ThrfsTer13
XM_011514086.1:c.[2854_2855insCT;3599C>T]	XP_011512388.1:p.Asn952ThrfsTer13
XM_011514087.1:c.[2854_2855insCT;3599C>T]	XP_011512389.1:p.Asn952ThrfsTer13
XM_011514088.1:c.[2854_2855insCT;3599C>T]	XP_011512390.1:p.Asn952ThrfsTer13
XM_011514089.1:c.[2854_2855insCT;3599C>T]	XP_011512391.1:p.Asn952ThrfsTer13
XM_011514090.1:c.[2536_2537insCT;3281C>T]	XP_011512392.1:p.Asn846ThrfsTer13
XM_011514091.1:c.[2182_2183insCT;2927C>T]	XP_011512393.1:p.Asn728ThrfsTer13
XM_011514092.1:c.[2854_2855insCT;3599C>T]	XP_011512394.1:p.Asn952ThrfsTer13
XM_011514093.1:c.[2854_2855insCT;3599C>T]	XP_011512395.1:p.Asn952ThrfsTer13
XM_011514094.1:c.[79_80insCT;824C>T]	XP_011512396.1:p.Asn27ThrfsTer13
XR_427661.2:n.[3029_3030insCT;3774C>T]
XR_925644.1:n.[3029_3030insCT;3774C>T]
XM_005248345.4:c.[2854_2855insCT;3599C>T]	XP_005248402.1:p.Asn952ThrfsTer13
XM_005248346.4:c.[2854_2855insCT;3599C>T]	XP_005248403.1:p.Asn952ThrfsTer13
XM_005248347.4:c.[2854_2855insCT;3599C>T]	XP_005248404.1:p.Asn952ThrfsTer13
XM_005248349.4:c.[2854_2855insCT;3599C>T]	XP_005248406.1:p.Asn952ThrfsTer13
XM_005248350.4:c.[2854_2855insCT;3470C>T]	XP_005248407.1:p.Asn952ThrfsTer13
XM_011514085.3:c.[2854_2855insCT;3599C>T]	XP_011512387.1:p.Asn952ThrfsTer13
XM_011514086.3:c.[2854_2855insCT;3599C>T]	XP_011512388.1:p.Asn952ThrfsTer13
XM_011514087.2:c.[2854_2855insCT;3599C>T]	XP_011512389.1:p.Asn952ThrfsTer13
XM_011514088.2:c.[2854_2855insCT;3599C>T]	XP_011512390.1:p.Asn952ThrfsTer13
XM_011514089.2:c.[2854_2855insCT;3599C>T]	XP_011512391.1:p.Asn952ThrfsTer13
XM_011514090.3:c.[2536_2537insCT;3281C>T]	XP_011512392.1:p.Asn846ThrfsTer13
XM_011514092.2:c.[2854_2855insCT;3599C>T]	XP_011512394.1:p.Asn952ThrfsTer13
XM_011514094.2:c.[79_80insCT;824C>T]	XP_011512396.1:p.Asn27ThrfsTer13
XM_017009760.1:c.[2665_2666insCT;3410C>T]	XP_016865249.1:p.Asn889ThrfsTer13
XM_017009761.2:c.[2665_2666insCT;3410C>T]	XP_016865250.1:p.Asn889ThrfsTer13
XM_017009763.1:c.[1861_1862insCT;2606C>T]	XP_016865252.1:p.Asn621ThrfsTer13
XM_017009765.1:c.[1666_1667insCT;2411C>T]	XP_016865254.1:p.Asn556ThrfsTer13
XM_017009766.1:c.[-651_-650insCT;242C>T]	XP_016865255.1:p.Ala81Val
XM_024446183.1:c.[2665_2666insCT;3410C>T]	XP_024301951.1:p.Asn889ThrfsTer13
XM_024446184.1:c.[2536_2537insCT;3281C>T]	XP_024301952.1:p.Asn846ThrfsTer13
XM_024446185.1:c.[2182_2183insCT;2927C>T]	XP_024301953.1:p.Asn728ThrfsTer13
XM_024446186.1:c.[1861_1862insCT;2606C>T]	XP_024301954.1:p.Asn621ThrfsTer13
XR_001742208.1:n.[3078_3079insCT;3823C>T]
XR_002956171.1:n.[3078_3079insCT;3823C>T]
XR_925644.2:n.[3078_3079insCT;3823C>T]
NM_001384732.1:c.[2854_2855insCT;3599C>T] MANE Select	NP_001371661.1:p.Asn952ThrfsTer13
NM_023073.4:c.[2854_2855insCT;3599C>T]	NP_075561.3:p.Asn952ThrfsTer13