Canonical Allele Identifier: CA2765914102

Gene: CPLANE1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37153987_37153988del , CM000667.2:g.37153987_37153988del	GRCh38
NC_000005.9:g.37154089_37154090del , CM000667.1:g.37154089_37154090del	GRCh37
NC_000005.8:g.37189846_37189847del	NCBI36
NG_032772.1:g.100441_100442del
NG_032772.2:g.100441_100442del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000510830.2:n.1124_1125del
ENST00000651892.2:c.8125_8126del MANE Select	ENSP00000498265.2:p.Pro2709LysfsTer?
ENST00000425232.6:c.7963_7964del	ENSP00000389014.2:p.Pro2655LysfsTer?
ENST00000508244.5:c.7963_7964del	ENSP00000421690.1:p.Pro2655LysfsTer?
ENST00000509849.5:c.5137_5138del	ENSP00000426337.1:p.Pro1713LysfsTer?
ENST00000509957.5:n.367_368del
ENST00000511210.5:n.416_417del
ENST00000511824.2:c.1239_1240del
ENST00000514429.5:c.5161_5162del	ENSP00000424223.1:p.Pro1721LysfsTer?
ENST00000515380.1:n.377_378del
NM_023073.3:c.7963_7964del	NP_075561.3:p.Pro2655LysfsTer?
XM_005248345.2:c.8125_8126del	XP_005248402.1:p.Pro2709LysfsTer?
XM_005248346.2:c.8122_8123del	XP_005248403.1:p.Pro2708LysfsTer?
XM_005248347.2:c.8122_8123del	XP_005248404.1:p.Pro2708LysfsTer?
XM_005248349.2:c.8014_8015del	XP_005248406.1:p.Pro2672LysfsTer?
XM_005248350.2:c.7996_7997del	XP_005248407.1:p.Pro2666LysfsTer?
XM_005248353.3:c.4768_4769del	XP_005248410.1:p.Pro1590LysfsTer?
XM_006714489.2:c.8125_8126del	XP_006714552.1:p.Pro2709LysfsTer?
XM_006714491.2:c.2698_2699del	XP_006714554.1:p.Pro900LysfsTer?
XM_011514085.1:c.8125_8126del	XP_011512387.1:p.Pro2709LysfsTer?
XM_011514086.1:c.8125_8126del	XP_011512388.1:p.Pro2709LysfsTer?
XM_011514087.1:c.8071_8072del	XP_011512389.1:p.Pro2691LysfsTer?
XM_011514088.1:c.8017_8018del	XP_011512390.1:p.Pro2673LysfsTer?
XM_011514089.1:c.8125_8126del	XP_011512391.1:p.Pro2709LysfsTer?
XM_011514090.1:c.7807_7808del	XP_011512392.1:p.Pro2603LysfsTer?
XM_011514091.1:c.7453_7454del	XP_011512393.1:p.Pro2485LysfsTer?
XM_011514092.1:c.8125_8126del	XP_011512394.1:p.Pro2709LysfsTer?
XM_011514094.1:c.5350_5351del	XP_011512396.1:p.Pro1784LysfsTer?
XR_427661.2:n.8300_8301del
XR_925644.1:n.8300_8301del
XM_005248345.4:c.8125_8126del	XP_005248402.1:p.Pro2709LysfsTer?
XM_005248346.4:c.8122_8123del	XP_005248403.1:p.Pro2708LysfsTer?
XM_005248347.4:c.8122_8123del	XP_005248404.1:p.Pro2708LysfsTer?
XM_005248349.4:c.8014_8015del	XP_005248406.1:p.Pro2672LysfsTer?
XM_005248350.4:c.7996_7997del	XP_005248407.1:p.Pro2666LysfsTer?
XM_006714491.3:c.2698_2699del	XP_006714554.1:p.Pro900LysfsTer?
XM_011514085.3:c.8125_8126del	XP_011512387.1:p.Pro2709LysfsTer?
XM_011514086.3:c.8125_8126del	XP_011512388.1:p.Pro2709LysfsTer?
XM_011514087.2:c.8071_8072del	XP_011512389.1:p.Pro2691LysfsTer?
XM_011514088.2:c.8017_8018del	XP_011512390.1:p.Pro2673LysfsTer?
XM_011514089.2:c.8125_8126del	XP_011512391.1:p.Pro2709LysfsTer?
XM_011514090.3:c.7807_7808del	XP_011512392.1:p.Pro2603LysfsTer?
XM_011514092.2:c.8125_8126del	XP_011512394.1:p.Pro2709LysfsTer?
XM_011514094.2:c.5350_5351del	XP_011512396.1:p.Pro1784LysfsTer?
XM_017009760.1:c.7936_7937del	XP_016865249.1:p.Pro2646LysfsTer?
XM_017009761.2:c.7936_7937del	XP_016865250.1:p.Pro2646LysfsTer?
XM_017009763.1:c.7132_7133del	XP_016865252.1:p.Pro2378LysfsTer?
XM_017009765.1:c.6937_6938del	XP_016865254.1:p.Pro2313LysfsTer?
XM_017009766.1:c.4768_4769del	XP_016865255.1:p.Pro1590LysfsTer?
XM_024446183.1:c.7936_7937del	XP_024301951.1:p.Pro2646LysfsTer?
XM_024446184.1:c.7807_7808del	XP_024301952.1:p.Pro2603LysfsTer?
XM_024446185.1:c.7453_7454del	XP_024301953.1:p.Pro2485LysfsTer?
XM_024446186.1:c.7132_7133del	XP_024301954.1:p.Pro2378LysfsTer?
XR_001742208.1:n.8294_8295del
XR_002956171.1:n.8240_8241del
XR_925644.2:n.8349_8350del
NM_001384732.1:c.8125_8126del MANE Select	NP_001371661.1:p.Pro2709LysfsTer?
NM_023073.4:c.7963_7964del	NP_075561.3:p.Pro2655LysfsTer?