Canonical Allele Identifier: CA2595505975

Gene: CPLANE1

Linked Data

• dbSNP Id: rs2150627046
• gnomAD v3: 5-37154088-CACA-C
• gnomAD v4: 5-37154088-CACA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37154092_37154094del , CM000667.2:g.37154092_37154094del	GRCh38
NC_000005.9:g.37154194_37154196del , CM000667.1:g.37154194_37154196del	GRCh37
NC_000005.8:g.37189951_37189953del	NCBI36
NG_032772.1:g.100338_100340del
NG_032772.2:g.100338_100340del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000510830.2:n.1119-98_1119-96del
ENST00000651892.2:c.8120-98_8120-96del MANE Select	ENSP00000498265.2:n.8120-98_8120-96del
ENST00000425232.6:c.7958-98_7958-96del	ENSP00000389014.2:n.7958-98_7958-96del
ENST00000508244.5:c.7958-98_7958-96del	ENSP00000421690.1:n.7958-98_7958-96del
ENST00000509849.5:c.5132-98_5132-96del	ENSP00000426337.1:n.5132-98_5132-96del
ENST00000509957.5:n.362-98_362-96del
ENST00000511210.5:n.411-98_411-96del
ENST00000511824.2:c.1234-98_1234-96del
ENST00000514429.5:c.5156-98_5156-96del	ENSP00000424223.1:n.5156-98_5156-96del
ENST00000515380.1:n.372-98_372-96del
NM_023073.3:c.7958-98_7958-96del	NP_075561.3:n.7958-98_7958-96del
XM_005248345.2:c.8120-98_8120-96del	XP_005248402.1:n.8120-98_8120-96del
XM_005248346.2:c.8117-98_8117-96del	XP_005248403.1:n.8117-98_8117-96del
XM_005248347.2:c.8117-98_8117-96del	XP_005248404.1:n.8117-98_8117-96del
XM_005248349.2:c.8009-98_8009-96del	XP_005248406.1:n.8009-98_8009-96del
XM_005248350.2:c.7991-98_7991-96del	XP_005248407.1:n.7991-98_7991-96del
XM_005248353.3:c.4763-98_4763-96del	XP_005248410.1:n.4763-98_4763-96del
XM_006714489.2:c.8120-98_8120-96del	XP_006714552.1:n.8120-98_8120-96del
XM_006714491.2:c.2693-98_2693-96del	XP_006714554.1:n.2693-98_2693-96del
XM_011514085.1:c.8120-98_8120-96del	XP_011512387.1:n.8120-98_8120-96del
XM_011514086.1:c.8120-98_8120-96del	XP_011512388.1:n.8120-98_8120-96del
XM_011514087.1:c.8066-98_8066-96del	XP_011512389.1:n.8066-98_8066-96del
XM_011514088.1:c.8012-98_8012-96del	XP_011512390.1:n.8012-98_8012-96del
XM_011514089.1:c.8120-98_8120-96del	XP_011512391.1:n.8120-98_8120-96del
XM_011514090.1:c.7802-98_7802-96del	XP_011512392.1:n.7802-98_7802-96del
XM_011514091.1:c.7448-98_7448-96del	XP_011512393.1:n.7448-98_7448-96del
XM_011514092.1:c.8120-98_8120-96del	XP_011512394.1:n.8120-98_8120-96del
XM_011514094.1:c.5345-98_5345-96del	XP_011512396.1:n.5345-98_5345-96del
XR_427661.2:n.8295-98_8295-96del
XR_925644.1:n.8295-98_8295-96del
XM_005248345.4:c.8120-98_8120-96del	XP_005248402.1:n.8120-98_8120-96del
XM_005248346.4:c.8117-98_8117-96del	XP_005248403.1:n.8117-98_8117-96del
XM_005248347.4:c.8117-98_8117-96del	XP_005248404.1:n.8117-98_8117-96del
XM_005248349.4:c.8009-98_8009-96del	XP_005248406.1:n.8009-98_8009-96del
XM_005248350.4:c.7991-98_7991-96del	XP_005248407.1:n.7991-98_7991-96del
XM_006714491.3:c.2693-98_2693-96del	XP_006714554.1:n.2693-98_2693-96del
XM_011514085.3:c.8120-98_8120-96del	XP_011512387.1:n.8120-98_8120-96del
XM_011514086.3:c.8120-98_8120-96del	XP_011512388.1:n.8120-98_8120-96del
XM_011514087.2:c.8066-98_8066-96del	XP_011512389.1:n.8066-98_8066-96del
XM_011514088.2:c.8012-98_8012-96del	XP_011512390.1:n.8012-98_8012-96del
XM_011514089.2:c.8120-98_8120-96del	XP_011512391.1:n.8120-98_8120-96del
XM_011514090.3:c.7802-98_7802-96del	XP_011512392.1:n.7802-98_7802-96del
XM_011514092.2:c.8120-98_8120-96del	XP_011512394.1:n.8120-98_8120-96del
XM_011514094.2:c.5345-98_5345-96del	XP_011512396.1:n.5345-98_5345-96del
XM_017009760.1:c.7931-98_7931-96del	XP_016865249.1:n.7931-98_7931-96del
XM_017009761.2:c.7931-98_7931-96del	XP_016865250.1:n.7931-98_7931-96del
XM_017009763.1:c.7127-98_7127-96del	XP_016865252.1:n.7127-98_7127-96del
XM_017009765.1:c.6932-98_6932-96del	XP_016865254.1:n.6932-98_6932-96del
XM_017009766.1:c.4763-98_4763-96del	XP_016865255.1:n.4763-98_4763-96del
XM_024446183.1:c.7931-98_7931-96del	XP_024301951.1:n.7931-98_7931-96del
XM_024446184.1:c.7802-98_7802-96del	XP_024301952.1:n.7802-98_7802-96del
XM_024446185.1:c.7448-98_7448-96del	XP_024301953.1:n.7448-98_7448-96del
XM_024446186.1:c.7127-98_7127-96del	XP_024301954.1:n.7127-98_7127-96del
XR_001742208.1:n.8289-98_8289-96del
XR_002956171.1:n.8235-98_8235-96del
XR_925644.2:n.8344-98_8344-96del
NM_001384732.1:c.8120-98_8120-96del MANE Select	NP_001371661.1:n.8120-98_8120-96del
NM_023073.4:c.7958-98_7958-96del	NP_075561.3:n.7958-98_7958-96del