Canonical Allele Identifier: CA1539667582
Gene: CPLANE1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.37125254_37125271delinsCTGGGACAGAAAGGATCA , CM000667.2:g.37125254_37125271delinsCTGGGACAGAAAGGATCA GRCh38
NC_000005.9:g.37125356_37125373delinsCTGGGACAGAAAGGATCA , CM000667.1:g.37125356_37125373delinsCTGGGACAGAAAGGATCA GRCh37
NC_000005.8:g.37161113_37161130delinsCTGGGACAGAAAGGATCA NCBI36
NG_032772.1:g.129158_129175delinsTGATCCTTTCTGTCCCAG
NG_032772.2:g.129158_129175delinsTGATCCTTTCTGTCCCAG

Transcript Alleles

HGVS Amino-acid change
ENST00000510830.2:n.1930_1947delinsTGATCCTTTCTGTCCCAG
ENST00000651892.2:c.8931_8948delinsTGATCCTTTCTGTCCCAG MANE Select ENSP00000498265.2:p.His2977=
ENST00000676160.1:n.792_809delinsTGATCCTTTCTGTCCCAG
ENST00000425232.6:c.8769_8786delinsTGATCCTTTCTGTCCCAG ENSP00000389014.2:p.His2923=
ENST00000508244.5:c.8769_8786delinsTGATCCTTTCTGTCCCAG ENSP00000421690.1:p.His2923=
ENST00000509849.5:c.5943_5960delinsTGATCCTTTCTGTCCCAG ENSP00000426337.1:n.5943_5960delinsTGATCCTTTCTGTCCCAG
ENST00000509957.5:n.4112_4129delinsTGATCCTTTCTGTCCCAG
ENST00000512288.5:n.342-3487_342-3470delinsTGATCCTTTCTGTCCCAG
ENST00000514429.5:c.5967_5984delinsTGATCCTTTCTGTCCCAG ENSP00000424223.1:p.His1989=
NM_023073.3:c.8769_8786delinsTGATCCTTTCTGTCCCAG NP_075561.3:p.His2923=
XM_005248345.2:c.8931_8948delinsTGATCCTTTCTGTCCCAG XP_005248402.1:p.His2977=
XM_005248346.2:c.8928_8945delinsTGATCCTTTCTGTCCCAG XP_005248403.1:p.His2976=
XM_005248347.2:c.8928_8945delinsTGATCCTTTCTGTCCCAG XP_005248404.1:p.His2976=
XM_005248349.2:c.8820_8837delinsTGATCCTTTCTGTCCCAG XP_005248406.1:p.His2940=
XM_005248350.2:c.8802_8819delinsTGATCCTTTCTGTCCCAG XP_005248407.1:p.His2934=
XM_005248353.3:c.5574_5591delinsTGATCCTTTCTGTCCCAG XP_005248410.1:p.His1858=
XM_006714489.2:c.8931_8948delinsTGATCCTTTCTGTCCCAG XP_006714552.1:p.His2977=
XM_006714491.2:c.3504_3521delinsTGATCCTTTCTGTCCCAG XP_006714554.1:p.His1168=
XM_011514085.1:c.8931_8948delinsTGATCCTTTCTGTCCCAG XP_011512387.1:p.His2977=
XM_011514086.1:c.8931_8948delinsTGATCCTTTCTGTCCCAG XP_011512388.1:p.His2977=
XM_011514087.1:c.8877_8894delinsTGATCCTTTCTGTCCCAG XP_011512389.1:p.His2959=
XM_011514088.1:c.8823_8840delinsTGATCCTTTCTGTCCCAG XP_011512390.1:p.His2941=
XM_011514089.1:c.8931_8948delinsTGATCCTTTCTGTCCCAG XP_011512391.1:p.His2977=
XM_011514090.1:c.8613_8630delinsTGATCCTTTCTGTCCCAG XP_011512392.1:p.His2871=
XM_011514091.1:c.8259_8276delinsTGATCCTTTCTGTCCCAG XP_011512393.1:p.His2753=
XM_011514092.1:c.8931_8948delinsTGATCCTTTCTGTCCCAG XP_011512394.1:p.His2977=
XM_011514094.1:c.6156_6173delinsTGATCCTTTCTGTCCCAG XP_011512396.1:p.His2052=
XR_427661.2:n.9106_9123delinsTGATCCTTTCTGTCCCAG
XR_925644.1:n.9106_9123delinsTGATCCTTTCTGTCCCAG
XM_005248345.4:c.8931_8948delinsTGATCCTTTCTGTCCCAG XP_005248402.1:p.His2977=
XM_005248346.4:c.8928_8945delinsTGATCCTTTCTGTCCCAG XP_005248403.1:p.His2976=
XM_005248347.4:c.8928_8945delinsTGATCCTTTCTGTCCCAG XP_005248404.1:p.His2976=
XM_005248349.4:c.8820_8837delinsTGATCCTTTCTGTCCCAG XP_005248406.1:p.His2940=
XM_005248350.4:c.8802_8819delinsTGATCCTTTCTGTCCCAG XP_005248407.1:p.His2934=
XM_006714491.3:c.3504_3521delinsTGATCCTTTCTGTCCCAG XP_006714554.1:p.His1168=
XM_011514085.3:c.8931_8948delinsTGATCCTTTCTGTCCCAG XP_011512387.1:p.His2977=
XM_011514086.3:c.8931_8948delinsTGATCCTTTCTGTCCCAG XP_011512388.1:p.His2977=
XM_011514087.2:c.8877_8894delinsTGATCCTTTCTGTCCCAG XP_011512389.1:p.His2959=
XM_011514088.2:c.8823_8840delinsTGATCCTTTCTGTCCCAG XP_011512390.1:p.His2941=
XM_011514089.2:c.8931_8948delinsTGATCCTTTCTGTCCCAG XP_011512391.1:p.His2977=
XM_011514090.3:c.8613_8630delinsTGATCCTTTCTGTCCCAG XP_011512392.1:p.His2871=
XM_011514092.2:c.8931_8948delinsTGATCCTTTCTGTCCCAG XP_011512394.1:p.His2977=
XM_011514094.2:c.6156_6173delinsTGATCCTTTCTGTCCCAG XP_011512396.1:p.His2052=
XM_017009760.1:c.8742_8759delinsTGATCCTTTCTGTCCCAG XP_016865249.1:p.His2914=
XM_017009761.2:c.8742_8759delinsTGATCCTTTCTGTCCCAG XP_016865250.1:p.His2914=
XM_017009763.1:c.7938_7955delinsTGATCCTTTCTGTCCCAG XP_016865252.1:p.His2646=
XM_017009765.1:c.7743_7760delinsTGATCCTTTCTGTCCCAG XP_016865254.1:p.His2581=
XM_017009766.1:c.5574_5591delinsTGATCCTTTCTGTCCCAG XP_016865255.1:p.His1858=
XM_024446183.1:c.8742_8759delinsTGATCCTTTCTGTCCCAG XP_024301951.1:p.His2914=
XM_024446184.1:c.8613_8630delinsTGATCCTTTCTGTCCCAG XP_024301952.1:p.His2871=
XM_024446185.1:c.8259_8276delinsTGATCCTTTCTGTCCCAG XP_024301953.1:p.His2753=
XM_024446186.1:c.7938_7955delinsTGATCCTTTCTGTCCCAG XP_024301954.1:p.His2646=
XR_925644.2:n.9155_9172delinsTGATCCTTTCTGTCCCAG
NM_001384732.1:c.8931_8948delinsTGATCCTTTCTGTCCCAG MANE Select NP_001371661.1:p.His2977=
NM_023073.4:c.8769_8786delinsTGATCCTTTCTGTCCCAG NP_075561.3:p.His2923=