Canonical Allele Identifier: CA559022565

Gene: CPLANE1

Linked Data

• gnomAD v2: 5-37157679-TAGG-T
• gnomAD v3: 5-37157577-TAGG-T
• gnomAD v4: 5-37157577-TAGG-T
• MyVariant Identifiers: chr5:g.37157680_37157682del (hg19) ; chr5:g.37157578_37157580del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37157583_37157585del , CM000667.2:g.37157583_37157585del	GRCh38
NC_000005.9:g.37157685_37157687del , CM000667.1:g.37157685_37157687del	GRCh37
NC_000005.8:g.37193442_37193444del	NCBI36
NG_032772.1:g.96849_96851del
NG_032772.2:g.96849_96851del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000510830.2:n.1010+90_1010+92del
ENST00000651892.2:c.8011+90_8011+92del MANE Select	ENSP00000498265.2:n.8011+90_8011+92del
ENST00000425232.6:c.7957+90_7957+92del	ENSP00000389014.2:n.7957+90_7957+92del
ENST00000508244.5:c.7957+90_7957+92del	ENSP00000421690.1:n.7957+90_7957+92del
ENST00000509849.5:c.5023+90_5023+92del	ENSP00000426337.1:n.5023+90_5023+92del
ENST00000509957.5:n.253+90_253+92del
ENST00000511210.5:n.302+90_302+92del
ENST00000511824.2:c.1083+90_1083+92del
ENST00000514429.5:c.5155+90_5155+92del	ENSP00000424223.1:n.5155+90_5155+92del
ENST00000515380.1:n.263+90_263+92del
NM_023073.3:c.7957+90_7957+92del	NP_075561.3:n.7957+90_7957+92del
XM_005248345.2:c.8011+90_8011+92del	XP_005248402.1:n.8011+90_8011+92del
XM_005248346.2:c.8008+90_8008+92del	XP_005248403.1:n.8008+90_8008+92del
XM_005248347.2:c.8008+90_8008+92del	XP_005248404.1:n.8008+90_8008+92del
XM_005248349.2:c.8008+90_8008+92del	XP_005248406.1:n.8008+90_8008+92del
XM_005248350.2:c.7882+90_7882+92del	XP_005248407.1:n.7882+90_7882+92del
XM_005248353.3:c.4654+90_4654+92del	XP_005248410.1:n.4654+90_4654+92del
XM_006714489.2:c.8011+90_8011+92del	XP_006714552.1:n.8011+90_8011+92del
XM_006714491.2:c.2584+90_2584+92del	XP_006714554.1:n.2584+90_2584+92del
XM_011514085.1:c.8011+90_8011+92del	XP_011512387.1:n.8011+90_8011+92del
XM_011514086.1:c.8011+90_8011+92del	XP_011512388.1:n.8011+90_8011+92del
XM_011514087.1:c.7957+90_7957+92del	XP_011512389.1:n.7957+90_7957+92del
XM_011514088.1:c.8011+90_8011+92del	XP_011512390.1:n.8011+90_8011+92del
XM_011514089.1:c.8011+90_8011+92del	XP_011512391.1:n.8011+90_8011+92del
XM_011514090.1:c.7693+90_7693+92del	XP_011512392.1:n.7693+90_7693+92del
XM_011514091.1:c.7339+90_7339+92del	XP_011512393.1:n.7339+90_7339+92del
XM_011514092.1:c.8011+90_8011+92del	XP_011512394.1:n.8011+90_8011+92del
XM_011514094.1:c.5236+90_5236+92del	XP_011512396.1:n.5236+90_5236+92del
XR_427661.2:n.8186+90_8186+92del
XR_925644.1:n.8186+90_8186+92del
XM_005248345.4:c.8011+90_8011+92del	XP_005248402.1:n.8011+90_8011+92del
XM_005248346.4:c.8008+90_8008+92del	XP_005248403.1:n.8008+90_8008+92del
XM_005248347.4:c.8008+90_8008+92del	XP_005248404.1:n.8008+90_8008+92del
XM_005248349.4:c.8008+90_8008+92del	XP_005248406.1:n.8008+90_8008+92del
XM_005248350.4:c.7882+90_7882+92del	XP_005248407.1:n.7882+90_7882+92del
XM_006714491.3:c.2584+90_2584+92del	XP_006714554.1:n.2584+90_2584+92del
XM_011514085.3:c.8011+90_8011+92del	XP_011512387.1:n.8011+90_8011+92del
XM_011514086.3:c.8011+90_8011+92del	XP_011512388.1:n.8011+90_8011+92del
XM_011514087.2:c.7957+90_7957+92del	XP_011512389.1:n.7957+90_7957+92del
XM_011514088.2:c.8011+90_8011+92del	XP_011512390.1:n.8011+90_8011+92del
XM_011514089.2:c.8011+90_8011+92del	XP_011512391.1:n.8011+90_8011+92del
XM_011514090.3:c.7693+90_7693+92del	XP_011512392.1:n.7693+90_7693+92del
XM_011514092.2:c.8011+90_8011+92del	XP_011512394.1:n.8011+90_8011+92del
XM_011514094.2:c.5236+90_5236+92del	XP_011512396.1:n.5236+90_5236+92del
XM_017009760.1:c.7822+90_7822+92del	XP_016865249.1:n.7822+90_7822+92del
XM_017009761.2:c.7822+90_7822+92del	XP_016865250.1:n.7822+90_7822+92del
XM_017009763.1:c.7018+90_7018+92del	XP_016865252.1:n.7018+90_7018+92del
XM_017009765.1:c.6823+90_6823+92del	XP_016865254.1:n.6823+90_6823+92del
XM_017009766.1:c.4654+90_4654+92del	XP_016865255.1:n.4654+90_4654+92del
XM_024446183.1:c.7822+90_7822+92del	XP_024301951.1:n.7822+90_7822+92del
XM_024446184.1:c.7693+90_7693+92del	XP_024301952.1:n.7693+90_7693+92del
XM_024446185.1:c.7339+90_7339+92del	XP_024301953.1:n.7339+90_7339+92del
XM_024446186.1:c.7018+90_7018+92del	XP_024301954.1:n.7018+90_7018+92del
XR_001742208.1:n.8180+90_8180+92del
XR_002956171.1:n.8126+90_8126+92del
XR_925644.2:n.8235+90_8235+92del
NM_001384732.1:c.8011+90_8011+92del MANE Select	NP_001371661.1:n.8011+90_8011+92del
NM_023073.4:c.7957+90_7957+92del	NP_075561.3:n.7957+90_7957+92del