Canonical Allele Identifier: CA1539656569

Gene: CPLANE1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37157611_37157613delinsCAA , CM000667.2:g.37157611_37157613delinsCAA	GRCh38
NC_000005.9:g.37157713_37157715delinsCAA , CM000667.1:g.37157713_37157715delinsCAA	GRCh37
NC_000005.8:g.37193470_37193472delinsCAA	NCBI36
NG_032772.1:g.96816_96818delinsTTG
NG_032772.2:g.96816_96818delinsTTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000510830.2:n.1010+57_1010+59delinsTTG
ENST00000651892.2:c.8011+57_8011+59delinsTTG MANE Select	ENSP00000498265.2:n.8011+57_8011+59delinsTTG
ENST00000425232.6:c.7957+57_7957+59delinsTTG	ENSP00000389014.2:n.7957+57_7957+59delinsTTG
ENST00000508244.5:c.7957+57_7957+59delinsTTG	ENSP00000421690.1:n.7957+57_7957+59delinsTTG
ENST00000509849.5:c.5023+57_5023+59delinsTTG	ENSP00000426337.1:n.5023+57_5023+59delinsTTG
ENST00000509957.5:n.253+57_253+59delinsTTG
ENST00000511210.5:n.302+57_302+59delinsTTG
ENST00000511824.2:c.1083+57_1083+59delinsTTG
ENST00000514429.5:c.5155+57_5155+59delinsTTG	ENSP00000424223.1:n.5155+57_5155+59delinsTTG
ENST00000515380.1:n.263+57_263+59delinsTTG
NM_023073.3:c.7957+57_7957+59delinsTTG	NP_075561.3:n.7957+57_7957+59delinsTTG
XM_005248345.2:c.8011+57_8011+59delinsTTG	XP_005248402.1:n.8011+57_8011+59delinsTTG
XM_005248346.2:c.8008+57_8008+59delinsTTG	XP_005248403.1:n.8008+57_8008+59delinsTTG
XM_005248347.2:c.8008+57_8008+59delinsTTG	XP_005248404.1:n.8008+57_8008+59delinsTTG
XM_005248349.2:c.8008+57_8008+59delinsTTG	XP_005248406.1:n.8008+57_8008+59delinsTTG
XM_005248350.2:c.7882+57_7882+59delinsTTG	XP_005248407.1:n.7882+57_7882+59delinsTTG
XM_005248353.3:c.4654+57_4654+59delinsTTG	XP_005248410.1:n.4654+57_4654+59delinsTTG
XM_006714489.2:c.8011+57_8011+59delinsTTG	XP_006714552.1:n.8011+57_8011+59delinsTTG
XM_006714491.2:c.2584+57_2584+59delinsTTG	XP_006714554.1:n.2584+57_2584+59delinsTTG
XM_011514085.1:c.8011+57_8011+59delinsTTG	XP_011512387.1:n.8011+57_8011+59delinsTTG
XM_011514086.1:c.8011+57_8011+59delinsTTG	XP_011512388.1:n.8011+57_8011+59delinsTTG
XM_011514087.1:c.7957+57_7957+59delinsTTG	XP_011512389.1:n.7957+57_7957+59delinsTTG
XM_011514088.1:c.8011+57_8011+59delinsTTG	XP_011512390.1:n.8011+57_8011+59delinsTTG
XM_011514089.1:c.8011+57_8011+59delinsTTG	XP_011512391.1:n.8011+57_8011+59delinsTTG
XM_011514090.1:c.7693+57_7693+59delinsTTG	XP_011512392.1:n.7693+57_7693+59delinsTTG
XM_011514091.1:c.7339+57_7339+59delinsTTG	XP_011512393.1:n.7339+57_7339+59delinsTTG
XM_011514092.1:c.8011+57_8011+59delinsTTG	XP_011512394.1:n.8011+57_8011+59delinsTTG
XM_011514094.1:c.5236+57_5236+59delinsTTG	XP_011512396.1:n.5236+57_5236+59delinsTTG
XR_427661.2:n.8186+57_8186+59delinsTTG
XR_925644.1:n.8186+57_8186+59delinsTTG
XM_005248345.4:c.8011+57_8011+59delinsTTG	XP_005248402.1:n.8011+57_8011+59delinsTTG
XM_005248346.4:c.8008+57_8008+59delinsTTG	XP_005248403.1:n.8008+57_8008+59delinsTTG
XM_005248347.4:c.8008+57_8008+59delinsTTG	XP_005248404.1:n.8008+57_8008+59delinsTTG
XM_005248349.4:c.8008+57_8008+59delinsTTG	XP_005248406.1:n.8008+57_8008+59delinsTTG
XM_005248350.4:c.7882+57_7882+59delinsTTG	XP_005248407.1:n.7882+57_7882+59delinsTTG
XM_006714491.3:c.2584+57_2584+59delinsTTG	XP_006714554.1:n.2584+57_2584+59delinsTTG
XM_011514085.3:c.8011+57_8011+59delinsTTG	XP_011512387.1:n.8011+57_8011+59delinsTTG
XM_011514086.3:c.8011+57_8011+59delinsTTG	XP_011512388.1:n.8011+57_8011+59delinsTTG
XM_011514087.2:c.7957+57_7957+59delinsTTG	XP_011512389.1:n.7957+57_7957+59delinsTTG
XM_011514088.2:c.8011+57_8011+59delinsTTG	XP_011512390.1:n.8011+57_8011+59delinsTTG
XM_011514089.2:c.8011+57_8011+59delinsTTG	XP_011512391.1:n.8011+57_8011+59delinsTTG
XM_011514090.3:c.7693+57_7693+59delinsTTG	XP_011512392.1:n.7693+57_7693+59delinsTTG
XM_011514092.2:c.8011+57_8011+59delinsTTG	XP_011512394.1:n.8011+57_8011+59delinsTTG
XM_011514094.2:c.5236+57_5236+59delinsTTG	XP_011512396.1:n.5236+57_5236+59delinsTTG
XM_017009760.1:c.7822+57_7822+59delinsTTG	XP_016865249.1:n.7822+57_7822+59delinsTTG
XM_017009761.2:c.7822+57_7822+59delinsTTG	XP_016865250.1:n.7822+57_7822+59delinsTTG
XM_017009763.1:c.7018+57_7018+59delinsTTG	XP_016865252.1:n.7018+57_7018+59delinsTTG
XM_017009765.1:c.6823+57_6823+59delinsTTG	XP_016865254.1:n.6823+57_6823+59delinsTTG
XM_017009766.1:c.4654+57_4654+59delinsTTG	XP_016865255.1:n.4654+57_4654+59delinsTTG
XM_024446183.1:c.7822+57_7822+59delinsTTG	XP_024301951.1:n.7822+57_7822+59delinsTTG
XM_024446184.1:c.7693+57_7693+59delinsTTG	XP_024301952.1:n.7693+57_7693+59delinsTTG
XM_024446185.1:c.7339+57_7339+59delinsTTG	XP_024301953.1:n.7339+57_7339+59delinsTTG
XM_024446186.1:c.7018+57_7018+59delinsTTG	XP_024301954.1:n.7018+57_7018+59delinsTTG
XR_001742208.1:n.8180+57_8180+59delinsTTG
XR_002956171.1:n.8126+57_8126+59delinsTTG
XR_925644.2:n.8235+57_8235+59delinsTTG
NM_001384732.1:c.8011+57_8011+59delinsTTG MANE Select	NP_001371661.1:n.8011+57_8011+59delinsTTG
NM_023073.4:c.7957+57_7957+59delinsTTG	NP_075561.3:n.7957+57_7957+59delinsTTG