Canonical Allele Identifier: CA2765914097

Gene: CPLANE1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37153970_37153971insCT , CM000667.2:g.37153970_37153971insCT	GRCh38
NC_000005.9:g.37154072_37154073insCT , CM000667.1:g.37154072_37154073insCT	GRCh37
NC_000005.8:g.37189829_37189830insCT	NCBI36
NG_032772.1:g.100458_100459insAG
NG_032772.2:g.100458_100459insAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000510830.2:n.1141_1142insAG
ENST00000651892.2:c.8142_8143insAG MANE Select	ENSP00000498265.2:p.Phe2715SerfsTer?
ENST00000425232.6:c.7980_7981insAG	ENSP00000389014.2:p.Phe2661SerfsTer?
ENST00000508244.5:c.7980_7981insAG	ENSP00000421690.1:p.Phe2661SerfsTer?
ENST00000509849.5:c.5154_5155insAG	ENSP00000426337.1:p.Phe1719SerfsTer?
ENST00000509957.5:n.384_385insAG
ENST00000511210.5:n.433_434insAG
ENST00000511824.2:c.1256_1257insAG
ENST00000514429.5:c.5178_5179insAG	ENSP00000424223.1:p.Phe1727SerfsTer?
ENST00000515380.1:n.394_395insAG
NM_023073.3:c.7980_7981insAG	NP_075561.3:p.Phe2661SerfsTer?
XM_005248345.2:c.8142_8143insAG	XP_005248402.1:p.Phe2715SerfsTer?
XM_005248346.2:c.8139_8140insAG	XP_005248403.1:p.Phe2714SerfsTer?
XM_005248347.2:c.8139_8140insAG	XP_005248404.1:p.Phe2714SerfsTer?
XM_005248349.2:c.8031_8032insAG	XP_005248406.1:p.Phe2678SerfsTer?
XM_005248350.2:c.8013_8014insAG	XP_005248407.1:p.Phe2672SerfsTer?
XM_005248353.3:c.4785_4786insAG	XP_005248410.1:p.Phe1596SerfsTer?
XM_006714489.2:c.8142_8143insAG	XP_006714552.1:p.Phe2715SerfsTer?
XM_006714491.2:c.2715_2716insAG	XP_006714554.1:p.Phe906SerfsTer?
XM_011514085.1:c.8142_8143insAG	XP_011512387.1:p.Phe2715SerfsTer?
XM_011514086.1:c.8142_8143insAG	XP_011512388.1:p.Phe2715SerfsTer?
XM_011514087.1:c.8088_8089insAG	XP_011512389.1:p.Phe2697SerfsTer?
XM_011514088.1:c.8034_8035insAG	XP_011512390.1:p.Phe2679SerfsTer?
XM_011514089.1:c.8142_8143insAG	XP_011512391.1:p.Phe2715SerfsTer?
XM_011514090.1:c.7824_7825insAG	XP_011512392.1:p.Phe2609SerfsTer?
XM_011514091.1:c.7470_7471insAG	XP_011512393.1:p.Phe2491SerfsTer?
XM_011514092.1:c.8142_8143insAG	XP_011512394.1:p.Phe2715SerfsTer?
XM_011514094.1:c.5367_5368insAG	XP_011512396.1:p.Phe1790SerfsTer?
XR_427661.2:n.8317_8318insAG
XR_925644.1:n.8317_8318insAG
XM_005248345.4:c.8142_8143insAG	XP_005248402.1:p.Phe2715SerfsTer?
XM_005248346.4:c.8139_8140insAG	XP_005248403.1:p.Phe2714SerfsTer?
XM_005248347.4:c.8139_8140insAG	XP_005248404.1:p.Phe2714SerfsTer?
XM_005248349.4:c.8031_8032insAG	XP_005248406.1:p.Phe2678SerfsTer?
XM_005248350.4:c.8013_8014insAG	XP_005248407.1:p.Phe2672SerfsTer?
XM_006714491.3:c.2715_2716insAG	XP_006714554.1:p.Phe906SerfsTer?
XM_011514085.3:c.8142_8143insAG	XP_011512387.1:p.Phe2715SerfsTer?
XM_011514086.3:c.8142_8143insAG	XP_011512388.1:p.Phe2715SerfsTer?
XM_011514087.2:c.8088_8089insAG	XP_011512389.1:p.Phe2697SerfsTer?
XM_011514088.2:c.8034_8035insAG	XP_011512390.1:p.Phe2679SerfsTer?
XM_011514089.2:c.8142_8143insAG	XP_011512391.1:p.Phe2715SerfsTer?
XM_011514090.3:c.7824_7825insAG	XP_011512392.1:p.Phe2609SerfsTer?
XM_011514092.2:c.8142_8143insAG	XP_011512394.1:p.Phe2715SerfsTer?
XM_011514094.2:c.5367_5368insAG	XP_011512396.1:p.Phe1790SerfsTer?
XM_017009760.1:c.7953_7954insAG	XP_016865249.1:p.Phe2652SerfsTer?
XM_017009761.2:c.7953_7954insAG	XP_016865250.1:p.Phe2652SerfsTer?
XM_017009763.1:c.7149_7150insAG	XP_016865252.1:p.Phe2384SerfsTer?
XM_017009765.1:c.6954_6955insAG	XP_016865254.1:p.Phe2319SerfsTer?
XM_017009766.1:c.4785_4786insAG	XP_016865255.1:p.Phe1596SerfsTer?
XM_024446183.1:c.7953_7954insAG	XP_024301951.1:p.Phe2652SerfsTer?
XM_024446184.1:c.7824_7825insAG	XP_024301952.1:p.Phe2609SerfsTer?
XM_024446185.1:c.7470_7471insAG	XP_024301953.1:p.Phe2491SerfsTer?
XM_024446186.1:c.7149_7150insAG	XP_024301954.1:p.Phe2384SerfsTer?
XR_001742208.1:n.8311_8312insAG
XR_002956171.1:n.8257_8258insAG
XR_925644.2:n.8366_8367insAG
NM_001384732.1:c.8142_8143insAG MANE Select	NP_001371661.1:p.Phe2715SerfsTer?
NM_023073.4:c.7980_7981insAG	NP_075561.3:p.Phe2661SerfsTer?