Canonical Allele Identifier: CA2765914159
Gene: CPLANE1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.37154102_37154103insACA , CM000667.2:g.37154102_37154103insACA GRCh38
NC_000005.9:g.37154204_37154205insACA , CM000667.1:g.37154204_37154205insACA GRCh37
NC_000005.8:g.37189961_37189962insACA NCBI36
NG_032772.1:g.100326_100327insTGT
NG_032772.2:g.100326_100327insTGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000510830.2:n.1119-110_1119-109insTGT
ENST00000651892.2:c.8120-110_8120-109insTGT MANE Select ENSP00000498265.2:n.8120-110_8120-109insTGT
ENST00000425232.6:c.7958-110_7958-109insTGT ENSP00000389014.2:n.7958-110_7958-109insTGT
ENST00000508244.5:c.7958-110_7958-109insTGT ENSP00000421690.1:n.7958-110_7958-109insTGT
ENST00000509849.5:c.5132-110_5132-109insTGT ENSP00000426337.1:n.5132-110_5132-109insTGT
ENST00000509957.5:n.362-110_362-109insTGT
ENST00000511210.5:n.411-110_411-109insTGT
ENST00000511824.2:c.1234-110_1234-109insTGT
ENST00000514429.5:c.5156-110_5156-109insTGT ENSP00000424223.1:n.5156-110_5156-109insTGT
ENST00000515380.1:n.372-110_372-109insTGT
NM_023073.3:c.7958-110_7958-109insTGT NP_075561.3:n.7958-110_7958-109insTGT
XM_005248345.2:c.8120-110_8120-109insTGT XP_005248402.1:n.8120-110_8120-109insTGT
XM_005248346.2:c.8117-110_8117-109insTGT XP_005248403.1:n.8117-110_8117-109insTGT
XM_005248347.2:c.8117-110_8117-109insTGT XP_005248404.1:n.8117-110_8117-109insTGT
XM_005248349.2:c.8009-110_8009-109insTGT XP_005248406.1:n.8009-110_8009-109insTGT
XM_005248350.2:c.7991-110_7991-109insTGT XP_005248407.1:n.7991-110_7991-109insTGT
XM_005248353.3:c.4763-110_4763-109insTGT XP_005248410.1:n.4763-110_4763-109insTGT
XM_006714489.2:c.8120-110_8120-109insTGT XP_006714552.1:n.8120-110_8120-109insTGT
XM_006714491.2:c.2693-110_2693-109insTGT XP_006714554.1:n.2693-110_2693-109insTGT
XM_011514085.1:c.8120-110_8120-109insTGT XP_011512387.1:n.8120-110_8120-109insTGT
XM_011514086.1:c.8120-110_8120-109insTGT XP_011512388.1:n.8120-110_8120-109insTGT
XM_011514087.1:c.8066-110_8066-109insTGT XP_011512389.1:n.8066-110_8066-109insTGT
XM_011514088.1:c.8012-110_8012-109insTGT XP_011512390.1:n.8012-110_8012-109insTGT
XM_011514089.1:c.8120-110_8120-109insTGT XP_011512391.1:n.8120-110_8120-109insTGT
XM_011514090.1:c.7802-110_7802-109insTGT XP_011512392.1:n.7802-110_7802-109insTGT
XM_011514091.1:c.7448-110_7448-109insTGT XP_011512393.1:n.7448-110_7448-109insTGT
XM_011514092.1:c.8120-110_8120-109insTGT XP_011512394.1:n.8120-110_8120-109insTGT
XM_011514094.1:c.5345-110_5345-109insTGT XP_011512396.1:n.5345-110_5345-109insTGT
XR_427661.2:n.8295-110_8295-109insTGT
XR_925644.1:n.8295-110_8295-109insTGT
XM_005248345.4:c.8120-110_8120-109insTGT XP_005248402.1:n.8120-110_8120-109insTGT
XM_005248346.4:c.8117-110_8117-109insTGT XP_005248403.1:n.8117-110_8117-109insTGT
XM_005248347.4:c.8117-110_8117-109insTGT XP_005248404.1:n.8117-110_8117-109insTGT
XM_005248349.4:c.8009-110_8009-109insTGT XP_005248406.1:n.8009-110_8009-109insTGT
XM_005248350.4:c.7991-110_7991-109insTGT XP_005248407.1:n.7991-110_7991-109insTGT
XM_006714491.3:c.2693-110_2693-109insTGT XP_006714554.1:n.2693-110_2693-109insTGT
XM_011514085.3:c.8120-110_8120-109insTGT XP_011512387.1:n.8120-110_8120-109insTGT
XM_011514086.3:c.8120-110_8120-109insTGT XP_011512388.1:n.8120-110_8120-109insTGT
XM_011514087.2:c.8066-110_8066-109insTGT XP_011512389.1:n.8066-110_8066-109insTGT
XM_011514088.2:c.8012-110_8012-109insTGT XP_011512390.1:n.8012-110_8012-109insTGT
XM_011514089.2:c.8120-110_8120-109insTGT XP_011512391.1:n.8120-110_8120-109insTGT
XM_011514090.3:c.7802-110_7802-109insTGT XP_011512392.1:n.7802-110_7802-109insTGT
XM_011514092.2:c.8120-110_8120-109insTGT XP_011512394.1:n.8120-110_8120-109insTGT
XM_011514094.2:c.5345-110_5345-109insTGT XP_011512396.1:n.5345-110_5345-109insTGT
XM_017009760.1:c.7931-110_7931-109insTGT XP_016865249.1:n.7931-110_7931-109insTGT
XM_017009761.2:c.7931-110_7931-109insTGT XP_016865250.1:n.7931-110_7931-109insTGT
XM_017009763.1:c.7127-110_7127-109insTGT XP_016865252.1:n.7127-110_7127-109insTGT
XM_017009765.1:c.6932-110_6932-109insTGT XP_016865254.1:n.6932-110_6932-109insTGT
XM_017009766.1:c.4763-110_4763-109insTGT XP_016865255.1:n.4763-110_4763-109insTGT
XM_024446183.1:c.7931-110_7931-109insTGT XP_024301951.1:n.7931-110_7931-109insTGT
XM_024446184.1:c.7802-110_7802-109insTGT XP_024301952.1:n.7802-110_7802-109insTGT
XM_024446185.1:c.7448-110_7448-109insTGT XP_024301953.1:n.7448-110_7448-109insTGT
XM_024446186.1:c.7127-110_7127-109insTGT XP_024301954.1:n.7127-110_7127-109insTGT
XR_001742208.1:n.8289-110_8289-109insTGT
XR_002956171.1:n.8235-110_8235-109insTGT
XR_925644.2:n.8344-110_8344-109insTGT
NM_001384732.1:c.8120-110_8120-109insTGT MANE Select NP_001371661.1:n.8120-110_8120-109insTGT
NM_023073.4:c.7958-110_7958-109insTGT NP_075561.3:n.7958-110_7958-109insTGT