Canonical Allele Identifier: CA279478

Gene: CPLANE1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37198742_37198743del , CM000667.2:g.37198742_37198743del	GRCh38
NC_000005.9:g.37198844_37198845del , CM000667.1:g.37198844_37198845del	GRCh37
NC_000005.8:g.37234601_37234602del	NCBI36
NG_032772.1:g.55691_55692del
NG_032772.2:g.55691_55692del

Transcript Alleles

HGVS	Amino-acid Change
NM_001384732.1:c.3636_3637del MANE Select	NP_001371661.1:p.Leu1213AlafsTer?
ENST00000651892.2:c.3636_3637del MANE Select	ENSP00000498265.2:p.Leu1213AlafsTer?
NM_023073.3:c.3636_3637del	NP_075561.3:p.Leu1213AlafsTer?
NM_023073.4:c.3636_3637del	NP_075561.3:p.Leu1213AlafsTer?
ENST00000425232.6:c.3636_3637del	ENSP00000389014.2:p.Leu1213AlafsTer?
ENST00000425232.7:c.3140_3141del
ENST00000508244.5:c.3636_3637del	ENSP00000421690.1:p.Leu1213AlafsTer?
ENST00000509849.5:c.651_652del	ENSP00000426337.1:p.Leu218AlafsTer?
ENST00000514429.5:c.780_781del	ENSP00000424223.1:p.Leu261AlafsTer?
ENST00000676290.1:n.3711_3712del
XM_005248345.2:c.3636_3637del	XP_005248402.1:p.Leu1213AlafsTer?
XM_005248345.4:c.3636_3637del	XP_005248402.1:p.Leu1213AlafsTer?
XM_005248346.2:c.3636_3637del	XP_005248403.1:p.Leu1213AlafsTer?
XM_005248346.4:c.3636_3637del	XP_005248403.1:p.Leu1213AlafsTer?
XM_005248347.2:c.3636_3637del	XP_005248404.1:p.Leu1213AlafsTer?
XM_005248347.4:c.3636_3637del	XP_005248404.1:p.Leu1213AlafsTer?
XM_005248349.2:c.3636_3637del	XP_005248406.1:p.Leu1213AlafsTer?
XM_005248349.4:c.3636_3637del	XP_005248406.1:p.Leu1213AlafsTer?
XM_005248350.2:c.3507_3508del	XP_005248407.1:p.Leu1170AlafsTer?
XM_005248350.4:c.3507_3508del	XP_005248407.1:p.Leu1170AlafsTer?
XM_005248353.3:c.279_280del	XP_005248410.1:p.Leu94AlafsTer?
XM_006714489.2:c.3636_3637del	XP_006714552.1:p.Leu1213AlafsTer?
XM_011514085.1:c.3636_3637del	XP_011512387.1:p.Leu1213AlafsTer?
XM_011514085.3:c.3636_3637del	XP_011512387.1:p.Leu1213AlafsTer?
XM_011514086.1:c.3636_3637del	XP_011512388.1:p.Leu1213AlafsTer?
XM_011514086.3:c.3636_3637del	XP_011512388.1:p.Leu1213AlafsTer?
XM_011514087.1:c.3636_3637del	XP_011512389.1:p.Leu1213AlafsTer?
XM_011514087.2:c.3636_3637del	XP_011512389.1:p.Leu1213AlafsTer?
XM_011514088.1:c.3636_3637del	XP_011512390.1:p.Leu1213AlafsTer?
XM_011514088.2:c.3636_3637del	XP_011512390.1:p.Leu1213AlafsTer?
XM_011514089.1:c.3636_3637del	XP_011512391.1:p.Leu1213AlafsTer?
XM_011514089.2:c.3636_3637del	XP_011512391.1:p.Leu1213AlafsTer?
XM_011514090.1:c.3318_3319del	XP_011512392.1:p.Leu1107AlafsTer?
XM_011514090.3:c.3318_3319del	XP_011512392.1:p.Leu1107AlafsTer?
XM_011514091.1:c.2964_2965del	XP_011512393.1:p.Leu989AlafsTer?
XM_011514092.1:c.3636_3637del	XP_011512394.1:p.Leu1213AlafsTer?
XM_011514092.2:c.3636_3637del	XP_011512394.1:p.Leu1213AlafsTer?
XM_011514093.1:c.3636_3637del	XP_011512395.1:p.Leu1213AlafsTer?
XM_011514094.1:c.861_862del	XP_011512396.1:p.Leu288AlafsTer?
XM_011514094.2:c.861_862del	XP_011512396.1:p.Leu288AlafsTer?
XM_017009760.1:c.3447_3448del	XP_016865249.1:p.Leu1150AlafsTer?
XM_017009761.2:c.3447_3448del	XP_016865250.1:p.Leu1150AlafsTer?
XM_017009763.1:c.2643_2644del	XP_016865252.1:p.Leu882AlafsTer?
XM_017009765.1:c.2448_2449del	XP_016865254.1:p.Leu817AlafsTer?
XM_017009766.1:c.279_280del	XP_016865255.1:p.Leu94AlafsTer?
XM_024446183.1:c.3447_3448del	XP_024301951.1:p.Leu1150AlafsTer?
XM_024446184.1:c.3318_3319del	XP_024301952.1:p.Leu1107AlafsTer?
XM_024446185.1:c.2964_2965del	XP_024301953.1:p.Leu989AlafsTer?
XM_024446186.1:c.2643_2644del	XP_024301954.1:p.Leu882AlafsTer?
XR_001742208.1:n.3860_3861del
XR_002956171.1:n.3860_3861del
XR_427661.2:n.3811_3812del
XR_925644.1:n.3811_3812del
XR_925644.2:n.3860_3861del