Canonical Allele Identifier: CA2765914101

Gene: CPLANE1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37153985_37153986insAC , CM000667.2:g.37153985_37153986insAC	GRCh38
NC_000005.9:g.37154087_37154088insAC , CM000667.1:g.37154087_37154088insAC	GRCh37
NC_000005.8:g.37189844_37189845insAC	NCBI36
NG_032772.1:g.100443_100444insGT
NG_032772.2:g.100443_100444insGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000510830.2:n.1126_1127insGT
ENST00000651892.2:c.8127_8128insGT MANE Select	ENSP00000498265.2:p.Lys2710ValfsTer?
ENST00000425232.6:c.7965_7966insGT	ENSP00000389014.2:p.Lys2656ValfsTer?
ENST00000508244.5:c.7965_7966insGT	ENSP00000421690.1:p.Lys2656ValfsTer?
ENST00000509849.5:c.5139_5140insGT	ENSP00000426337.1:p.Lys1714ValfsTer?
ENST00000509957.5:n.369_370insGT
ENST00000511210.5:n.418_419insGT
ENST00000511824.2:c.1241_1242insGT
ENST00000514429.5:c.5163_5164insGT	ENSP00000424223.1:p.Lys1722ValfsTer?
ENST00000515380.1:n.379_380insGT
NM_023073.3:c.7965_7966insGT	NP_075561.3:p.Lys2656ValfsTer?
XM_005248345.2:c.8127_8128insGT	XP_005248402.1:p.Lys2710ValfsTer?
XM_005248346.2:c.8124_8125insGT	XP_005248403.1:p.Lys2709ValfsTer?
XM_005248347.2:c.8124_8125insGT	XP_005248404.1:p.Lys2709ValfsTer?
XM_005248349.2:c.8016_8017insGT	XP_005248406.1:p.Lys2673ValfsTer?
XM_005248350.2:c.7998_7999insGT	XP_005248407.1:p.Lys2667ValfsTer?
XM_005248353.3:c.4770_4771insGT	XP_005248410.1:p.Lys1591ValfsTer?
XM_006714489.2:c.8127_8128insGT	XP_006714552.1:p.Lys2710ValfsTer?
XM_006714491.2:c.2700_2701insGT	XP_006714554.1:p.Lys901ValfsTer?
XM_011514085.1:c.8127_8128insGT	XP_011512387.1:p.Lys2710ValfsTer?
XM_011514086.1:c.8127_8128insGT	XP_011512388.1:p.Lys2710ValfsTer?
XM_011514087.1:c.8073_8074insGT	XP_011512389.1:p.Lys2692ValfsTer?
XM_011514088.1:c.8019_8020insGT	XP_011512390.1:p.Lys2674ValfsTer?
XM_011514089.1:c.8127_8128insGT	XP_011512391.1:p.Lys2710ValfsTer?
XM_011514090.1:c.7809_7810insGT	XP_011512392.1:p.Lys2604ValfsTer?
XM_011514091.1:c.7455_7456insGT	XP_011512393.1:p.Lys2486ValfsTer?
XM_011514092.1:c.8127_8128insGT	XP_011512394.1:p.Lys2710ValfsTer?
XM_011514094.1:c.5352_5353insGT	XP_011512396.1:p.Lys1785ValfsTer?
XR_427661.2:n.8302_8303insGT
XR_925644.1:n.8302_8303insGT
XM_005248345.4:c.8127_8128insGT	XP_005248402.1:p.Lys2710ValfsTer?
XM_005248346.4:c.8124_8125insGT	XP_005248403.1:p.Lys2709ValfsTer?
XM_005248347.4:c.8124_8125insGT	XP_005248404.1:p.Lys2709ValfsTer?
XM_005248349.4:c.8016_8017insGT	XP_005248406.1:p.Lys2673ValfsTer?
XM_005248350.4:c.7998_7999insGT	XP_005248407.1:p.Lys2667ValfsTer?
XM_006714491.3:c.2700_2701insGT	XP_006714554.1:p.Lys901ValfsTer?
XM_011514085.3:c.8127_8128insGT	XP_011512387.1:p.Lys2710ValfsTer?
XM_011514086.3:c.8127_8128insGT	XP_011512388.1:p.Lys2710ValfsTer?
XM_011514087.2:c.8073_8074insGT	XP_011512389.1:p.Lys2692ValfsTer?
XM_011514088.2:c.8019_8020insGT	XP_011512390.1:p.Lys2674ValfsTer?
XM_011514089.2:c.8127_8128insGT	XP_011512391.1:p.Lys2710ValfsTer?
XM_011514090.3:c.7809_7810insGT	XP_011512392.1:p.Lys2604ValfsTer?
XM_011514092.2:c.8127_8128insGT	XP_011512394.1:p.Lys2710ValfsTer?
XM_011514094.2:c.5352_5353insGT	XP_011512396.1:p.Lys1785ValfsTer?
XM_017009760.1:c.7938_7939insGT	XP_016865249.1:p.Lys2647ValfsTer?
XM_017009761.2:c.7938_7939insGT	XP_016865250.1:p.Lys2647ValfsTer?
XM_017009763.1:c.7134_7135insGT	XP_016865252.1:p.Lys2379ValfsTer?
XM_017009765.1:c.6939_6940insGT	XP_016865254.1:p.Lys2314ValfsTer?
XM_017009766.1:c.4770_4771insGT	XP_016865255.1:p.Lys1591ValfsTer?
XM_024446183.1:c.7938_7939insGT	XP_024301951.1:p.Lys2647ValfsTer?
XM_024446184.1:c.7809_7810insGT	XP_024301952.1:p.Lys2604ValfsTer?
XM_024446185.1:c.7455_7456insGT	XP_024301953.1:p.Lys2486ValfsTer?
XM_024446186.1:c.7134_7135insGT	XP_024301954.1:p.Lys2379ValfsTer?
XR_001742208.1:n.8296_8297insGT
XR_002956171.1:n.8242_8243insGT
XR_925644.2:n.8351_8352insGT
NM_001384732.1:c.8127_8128insGT MANE Select	NP_001371661.1:p.Lys2710ValfsTer?
NM_023073.4:c.7965_7966insGT	NP_075561.3:p.Lys2656ValfsTer?