Canonical Allele Identifier: CA1539656584

Gene: CPLANE1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37157629_37157630delinsCT , CM000667.2:g.37157629_37157630delinsCT	GRCh38
NC_000005.9:g.37157731_37157732delinsCT , CM000667.1:g.37157731_37157732delinsCT	GRCh37
NC_000005.8:g.37193488_37193489delinsCT	NCBI36
NG_032772.1:g.96799_96800delinsAG
NG_032772.2:g.96799_96800delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000510830.2:n.1010+40_1010+41delinsAG
ENST00000651892.2:c.8011+40_8011+41delinsAG MANE Select	ENSP00000498265.2:n.8011+40_8011+41delinsAG
ENST00000425232.6:c.7957+40_7957+41delinsAG	ENSP00000389014.2:n.7957+40_7957+41delinsAG
ENST00000508244.5:c.7957+40_7957+41delinsAG	ENSP00000421690.1:n.7957+40_7957+41delinsAG
ENST00000509849.5:c.5023+40_5023+41delinsAG	ENSP00000426337.1:n.5023+40_5023+41delinsAG
ENST00000509957.5:n.253+40_253+41delinsAG
ENST00000511210.5:n.302+40_302+41delinsAG
ENST00000511824.2:c.1083+40_1083+41delinsAG
ENST00000514429.5:c.5155+40_5155+41delinsAG	ENSP00000424223.1:n.5155+40_5155+41delinsAG
ENST00000515380.1:n.263+40_263+41delinsAG
NM_023073.3:c.7957+40_7957+41delinsAG	NP_075561.3:n.7957+40_7957+41delinsAG
XM_005248345.2:c.8011+40_8011+41delinsAG	XP_005248402.1:n.8011+40_8011+41delinsAG
XM_005248346.2:c.8008+40_8008+41delinsAG	XP_005248403.1:n.8008+40_8008+41delinsAG
XM_005248347.2:c.8008+40_8008+41delinsAG	XP_005248404.1:n.8008+40_8008+41delinsAG
XM_005248349.2:c.8008+40_8008+41delinsAG	XP_005248406.1:n.8008+40_8008+41delinsAG
XM_005248350.2:c.7882+40_7882+41delinsAG	XP_005248407.1:n.7882+40_7882+41delinsAG
XM_005248353.3:c.4654+40_4654+41delinsAG	XP_005248410.1:n.4654+40_4654+41delinsAG
XM_006714489.2:c.8011+40_8011+41delinsAG	XP_006714552.1:n.8011+40_8011+41delinsAG
XM_006714491.2:c.2584+40_2584+41delinsAG	XP_006714554.1:n.2584+40_2584+41delinsAG
XM_011514085.1:c.8011+40_8011+41delinsAG	XP_011512387.1:n.8011+40_8011+41delinsAG
XM_011514086.1:c.8011+40_8011+41delinsAG	XP_011512388.1:n.8011+40_8011+41delinsAG
XM_011514087.1:c.7957+40_7957+41delinsAG	XP_011512389.1:n.7957+40_7957+41delinsAG
XM_011514088.1:c.8011+40_8011+41delinsAG	XP_011512390.1:n.8011+40_8011+41delinsAG
XM_011514089.1:c.8011+40_8011+41delinsAG	XP_011512391.1:n.8011+40_8011+41delinsAG
XM_011514090.1:c.7693+40_7693+41delinsAG	XP_011512392.1:n.7693+40_7693+41delinsAG
XM_011514091.1:c.7339+40_7339+41delinsAG	XP_011512393.1:n.7339+40_7339+41delinsAG
XM_011514092.1:c.8011+40_8011+41delinsAG	XP_011512394.1:n.8011+40_8011+41delinsAG
XM_011514094.1:c.5236+40_5236+41delinsAG	XP_011512396.1:n.5236+40_5236+41delinsAG
XR_427661.2:n.8186+40_8186+41delinsAG
XR_925644.1:n.8186+40_8186+41delinsAG
XM_005248345.4:c.8011+40_8011+41delinsAG	XP_005248402.1:n.8011+40_8011+41delinsAG
XM_005248346.4:c.8008+40_8008+41delinsAG	XP_005248403.1:n.8008+40_8008+41delinsAG
XM_005248347.4:c.8008+40_8008+41delinsAG	XP_005248404.1:n.8008+40_8008+41delinsAG
XM_005248349.4:c.8008+40_8008+41delinsAG	XP_005248406.1:n.8008+40_8008+41delinsAG
XM_005248350.4:c.7882+40_7882+41delinsAG	XP_005248407.1:n.7882+40_7882+41delinsAG
XM_006714491.3:c.2584+40_2584+41delinsAG	XP_006714554.1:n.2584+40_2584+41delinsAG
XM_011514085.3:c.8011+40_8011+41delinsAG	XP_011512387.1:n.8011+40_8011+41delinsAG
XM_011514086.3:c.8011+40_8011+41delinsAG	XP_011512388.1:n.8011+40_8011+41delinsAG
XM_011514087.2:c.7957+40_7957+41delinsAG	XP_011512389.1:n.7957+40_7957+41delinsAG
XM_011514088.2:c.8011+40_8011+41delinsAG	XP_011512390.1:n.8011+40_8011+41delinsAG
XM_011514089.2:c.8011+40_8011+41delinsAG	XP_011512391.1:n.8011+40_8011+41delinsAG
XM_011514090.3:c.7693+40_7693+41delinsAG	XP_011512392.1:n.7693+40_7693+41delinsAG
XM_011514092.2:c.8011+40_8011+41delinsAG	XP_011512394.1:n.8011+40_8011+41delinsAG
XM_011514094.2:c.5236+40_5236+41delinsAG	XP_011512396.1:n.5236+40_5236+41delinsAG
XM_017009760.1:c.7822+40_7822+41delinsAG	XP_016865249.1:n.7822+40_7822+41delinsAG
XM_017009761.2:c.7822+40_7822+41delinsAG	XP_016865250.1:n.7822+40_7822+41delinsAG
XM_017009763.1:c.7018+40_7018+41delinsAG	XP_016865252.1:n.7018+40_7018+41delinsAG
XM_017009765.1:c.6823+40_6823+41delinsAG	XP_016865254.1:n.6823+40_6823+41delinsAG
XM_017009766.1:c.4654+40_4654+41delinsAG	XP_016865255.1:n.4654+40_4654+41delinsAG
XM_024446183.1:c.7822+40_7822+41delinsAG	XP_024301951.1:n.7822+40_7822+41delinsAG
XM_024446184.1:c.7693+40_7693+41delinsAG	XP_024301952.1:n.7693+40_7693+41delinsAG
XM_024446185.1:c.7339+40_7339+41delinsAG	XP_024301953.1:n.7339+40_7339+41delinsAG
XM_024446186.1:c.7018+40_7018+41delinsAG	XP_024301954.1:n.7018+40_7018+41delinsAG
XR_001742208.1:n.8180+40_8180+41delinsAG
XR_002956171.1:n.8126+40_8126+41delinsAG
XR_925644.2:n.8235+40_8235+41delinsAG
NM_001384732.1:c.8011+40_8011+41delinsAG MANE Select	NP_001371661.1:n.8011+40_8011+41delinsAG
NM_023073.4:c.7957+40_7957+41delinsAG	NP_075561.3:n.7957+40_7957+41delinsAG