Canonical Allele Identifier: CA2765914096

Gene: CPLANE1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37153968_37153969del , CM000667.2:g.37153968_37153969del	GRCh38
NC_000005.9:g.37154070_37154071del , CM000667.1:g.37154070_37154071del	GRCh37
NC_000005.8:g.37189827_37189828del	NCBI36
NG_032772.1:g.100460_100461del
NG_032772.2:g.100460_100461del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000510830.2:n.1143_1144del
ENST00000651892.2:c.8144_8145del MANE Select	ENSP00000498265.2:p.Phe2715Ter
ENST00000425232.6:c.7982_7983del	ENSP00000389014.2:p.Phe2661Ter
ENST00000508244.5:c.7982_7983del	ENSP00000421690.1:p.Phe2661Ter
ENST00000509849.5:c.5156_5157del	ENSP00000426337.1:p.Phe1719Ter
ENST00000509957.5:n.386_387del
ENST00000511210.5:n.435_436del
ENST00000511824.2:c.1258_1259del
ENST00000514429.5:c.5180_5181del	ENSP00000424223.1:p.Phe1727Ter
ENST00000515380.1:n.396_397del
NM_023073.3:c.7982_7983del	NP_075561.3:p.Phe2661Ter
XM_005248345.2:c.8144_8145del	XP_005248402.1:p.Phe2715Ter
XM_005248346.2:c.8141_8142del	XP_005248403.1:p.Phe2714Ter
XM_005248347.2:c.8141_8142del	XP_005248404.1:p.Phe2714Ter
XM_005248349.2:c.8033_8034del	XP_005248406.1:p.Phe2678Ter
XM_005248350.2:c.8015_8016del	XP_005248407.1:p.Phe2672Ter
XM_005248353.3:c.4787_4788del	XP_005248410.1:p.Phe1596Ter
XM_006714489.2:c.8144_8145del	XP_006714552.1:p.Phe2715Ter
XM_006714491.2:c.2717_2718del	XP_006714554.1:p.Phe906Ter
XM_011514085.1:c.8144_8145del	XP_011512387.1:p.Phe2715Ter
XM_011514086.1:c.8144_8145del	XP_011512388.1:p.Phe2715Ter
XM_011514087.1:c.8090_8091del	XP_011512389.1:p.Phe2697Ter
XM_011514088.1:c.8036_8037del	XP_011512390.1:p.Phe2679Ter
XM_011514089.1:c.8144_8145del	XP_011512391.1:p.Phe2715Ter
XM_011514090.1:c.7826_7827del	XP_011512392.1:p.Phe2609Ter
XM_011514091.1:c.7472_7473del	XP_011512393.1:p.Phe2491Ter
XM_011514092.1:c.8144_8145del	XP_011512394.1:p.Phe2715Ter
XM_011514094.1:c.5369_5370del	XP_011512396.1:p.Phe1790Ter
XR_427661.2:n.8319_8320del
XR_925644.1:n.8319_8320del
XM_005248345.4:c.8144_8145del	XP_005248402.1:p.Phe2715Ter
XM_005248346.4:c.8141_8142del	XP_005248403.1:p.Phe2714Ter
XM_005248347.4:c.8141_8142del	XP_005248404.1:p.Phe2714Ter
XM_005248349.4:c.8033_8034del	XP_005248406.1:p.Phe2678Ter
XM_005248350.4:c.8015_8016del	XP_005248407.1:p.Phe2672Ter
XM_006714491.3:c.2717_2718del	XP_006714554.1:p.Phe906Ter
XM_011514085.3:c.8144_8145del	XP_011512387.1:p.Phe2715Ter
XM_011514086.3:c.8144_8145del	XP_011512388.1:p.Phe2715Ter
XM_011514087.2:c.8090_8091del	XP_011512389.1:p.Phe2697Ter
XM_011514088.2:c.8036_8037del	XP_011512390.1:p.Phe2679Ter
XM_011514089.2:c.8144_8145del	XP_011512391.1:p.Phe2715Ter
XM_011514090.3:c.7826_7827del	XP_011512392.1:p.Phe2609Ter
XM_011514092.2:c.8144_8145del	XP_011512394.1:p.Phe2715Ter
XM_011514094.2:c.5369_5370del	XP_011512396.1:p.Phe1790Ter
XM_017009760.1:c.7955_7956del	XP_016865249.1:p.Phe2652Ter
XM_017009761.2:c.7955_7956del	XP_016865250.1:p.Phe2652Ter
XM_017009763.1:c.7151_7152del	XP_016865252.1:p.Phe2384Ter
XM_017009765.1:c.6956_6957del	XP_016865254.1:p.Phe2319Ter
XM_017009766.1:c.4787_4788del	XP_016865255.1:p.Phe1596Ter
XM_024446183.1:c.7955_7956del	XP_024301951.1:p.Phe2652Ter
XM_024446184.1:c.7826_7827del	XP_024301952.1:p.Phe2609Ter
XM_024446185.1:c.7472_7473del	XP_024301953.1:p.Phe2491Ter
XM_024446186.1:c.7151_7152del	XP_024301954.1:p.Phe2384Ter
XR_001742208.1:n.8313_8314del
XR_002956171.1:n.8259_8260del
XR_925644.2:n.8368_8369del
NM_001384732.1:c.8144_8145del MANE Select	NP_001371661.1:p.Phe2715Ter
NM_023073.4:c.7982_7983del	NP_075561.3:p.Phe2661Ter