Canonical Allele Identifier: CA1539651422

Gene: CPLANE1

Linked Data

• ClinVar Variation Id: 978622
• ClinVar RCV Id: RCV001257354
• dbSNP Id: rs1774291665

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37153959_37153960del , CM000667.2:g.37153959_37153960del	GRCh38
NC_000005.9:g.37154061_37154062del , CM000667.1:g.37154061_37154062del	GRCh37
NC_000005.8:g.37189818_37189819del	NCBI36
NG_032772.1:g.100471_100472del
NG_032772.2:g.100471_100472del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000510830.2:n.1154_1155del
ENST00000651892.2:c.8155_8156del MANE Select	ENSP00000498265.2:p.Ser2719HisfsTer?
ENST00000425232.6:c.7993_7994del	ENSP00000389014.2:p.Ser2665HisfsTer?
ENST00000508244.5:c.7993_7994del	ENSP00000421690.1:p.Ser2665HisfsTer?
ENST00000509849.5:c.5167_5168del	ENSP00000426337.1:p.Ser1723HisfsTer?
ENST00000509957.5:n.397_398del
ENST00000511210.5:n.446_447del
ENST00000511824.2:c.1269_1270del
ENST00000514429.5:c.5191_5192del	ENSP00000424223.1:p.Ser1731HisfsTer?
ENST00000515380.1:n.407_408del
NM_023073.3:c.7993_7994del	NP_075561.3:p.Ser2665HisfsTer?
XM_005248345.2:c.8155_8156del	XP_005248402.1:p.Ser2719HisfsTer?
XM_005248346.2:c.8152_8153del	XP_005248403.1:p.Ser2718HisfsTer?
XM_005248347.2:c.8152_8153del	XP_005248404.1:p.Ser2718HisfsTer?
XM_005248349.2:c.8044_8045del	XP_005248406.1:p.Ser2682HisfsTer?
XM_005248350.2:c.8026_8027del	XP_005248407.1:p.Ser2676HisfsTer?
XM_005248353.3:c.4798_4799del	XP_005248410.1:p.Ser1600HisfsTer?
XM_006714489.2:c.8155_8156del	XP_006714552.1:p.Ser2719HisfsTer?
XM_006714491.2:c.2728_2729del	XP_006714554.1:p.Ser910HisfsTer?
XM_011514085.1:c.8155_8156del	XP_011512387.1:p.Ser2719HisfsTer?
XM_011514086.1:c.8155_8156del	XP_011512388.1:p.Ser2719HisfsTer?
XM_011514087.1:c.8101_8102del	XP_011512389.1:p.Ser2701HisfsTer?
XM_011514088.1:c.8047_8048del	XP_011512390.1:p.Ser2683HisfsTer?
XM_011514089.1:c.8155_8156del	XP_011512391.1:p.Ser2719HisfsTer?
XM_011514090.1:c.7837_7838del	XP_011512392.1:p.Ser2613HisfsTer?
XM_011514091.1:c.7483_7484del	XP_011512393.1:p.Ser2495HisfsTer?
XM_011514092.1:c.8155_8156del	XP_011512394.1:p.Ser2719HisfsTer?
XM_011514094.1:c.5380_5381del	XP_011512396.1:p.Ser1794HisfsTer?
XR_427661.2:n.8330_8331del
XR_925644.1:n.8330_8331del
XM_005248345.4:c.8155_8156del	XP_005248402.1:p.Ser2719HisfsTer?
XM_005248346.4:c.8152_8153del	XP_005248403.1:p.Ser2718HisfsTer?
XM_005248347.4:c.8152_8153del	XP_005248404.1:p.Ser2718HisfsTer?
XM_005248349.4:c.8044_8045del	XP_005248406.1:p.Ser2682HisfsTer?
XM_005248350.4:c.8026_8027del	XP_005248407.1:p.Ser2676HisfsTer?
XM_006714491.3:c.2728_2729del	XP_006714554.1:p.Ser910HisfsTer?
XM_011514085.3:c.8155_8156del	XP_011512387.1:p.Ser2719HisfsTer?
XM_011514086.3:c.8155_8156del	XP_011512388.1:p.Ser2719HisfsTer?
XM_011514087.2:c.8101_8102del	XP_011512389.1:p.Ser2701HisfsTer?
XM_011514088.2:c.8047_8048del	XP_011512390.1:p.Ser2683HisfsTer?
XM_011514089.2:c.8155_8156del	XP_011512391.1:p.Ser2719HisfsTer?
XM_011514090.3:c.7837_7838del	XP_011512392.1:p.Ser2613HisfsTer?
XM_011514092.2:c.8155_8156del	XP_011512394.1:p.Ser2719HisfsTer?
XM_011514094.2:c.5380_5381del	XP_011512396.1:p.Ser1794HisfsTer?
XM_017009760.1:c.7966_7967del	XP_016865249.1:p.Ser2656HisfsTer?
XM_017009761.2:c.7966_7967del	XP_016865250.1:p.Ser2656HisfsTer?
XM_017009763.1:c.7162_7163del	XP_016865252.1:p.Ser2388HisfsTer?
XM_017009765.1:c.6967_6968del	XP_016865254.1:p.Ser2323HisfsTer?
XM_017009766.1:c.4798_4799del	XP_016865255.1:p.Ser1600HisfsTer?
XM_024446183.1:c.7966_7967del	XP_024301951.1:p.Ser2656HisfsTer?
XM_024446184.1:c.7837_7838del	XP_024301952.1:p.Ser2613HisfsTer?
XM_024446185.1:c.7483_7484del	XP_024301953.1:p.Ser2495HisfsTer?
XM_024446186.1:c.7162_7163del	XP_024301954.1:p.Ser2388HisfsTer?
XR_001742208.1:n.8324_8325del
XR_002956171.1:n.8270_8271del
XR_925644.2:n.8379_8380del
NM_001384732.1:c.8155_8156del MANE Select	NP_001371661.1:p.Ser2719HisfsTer?
NM_023073.4:c.7993_7994del	NP_075561.3:p.Ser2665HisfsTer?