Canonical Allele Identifier: CA117051705

Gene: CPLANE1

Linked Data

• dbSNP Id: rs753054549
• gnomAD v4: 5-37165595-GA-G
• MyVariant Identifiers: chr5:g.37165698del (hg19) ; chr5:g.37165596del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37165599del , CM000667.2:g.37165599del	GRCh38
NC_000005.9:g.37165701del , CM000667.1:g.37165701del	GRCh37
NC_000005.8:g.37201458del	NCBI36
NG_032772.1:g.88833del
NG_032772.2:g.88833del

Transcript Alleles

HGVS	Amino-acid change
ENST00000651892.2:c.7476del MANE Select	ENSP00000498265.2:p.Arg2493AspfsTer6
ENST00000675149.1:n.596del
ENST00000425232.6:c.7476del	ENSP00000389014.2:p.Arg2493AspfsTer6
ENST00000508244.5:c.7476del	ENSP00000421690.1:p.Arg2493AspfsTer6
ENST00000509849.5:c.4488del	ENSP00000426337.1:p.Arg1497AspfsTer6
ENST00000511824.2:c.548del
ENST00000514429.5:c.4620del	ENSP00000424223.1:p.Arg1541AspfsTer6
NM_023073.3:c.7476del	NP_075561.3:p.Arg2493AspfsTer6
XM_005248345.2:c.7476del	XP_005248402.1:p.Arg2493AspfsTer6
XM_005248346.2:c.7473del	XP_005248403.1:p.Arg2492AspfsTer6
XM_005248347.2:c.7473del	XP_005248404.1:p.Arg2492AspfsTer6
XM_005248349.2:c.7473del	XP_005248406.1:p.Arg2492AspfsTer6
XM_005248350.2:c.7347del	XP_005248407.1:p.Arg2450AspfsTer6
XM_005248353.3:c.4119del	XP_005248410.1:p.Arg1374AspfsTer6
XM_006714489.2:c.7476del	XP_006714552.1:p.Arg2493AspfsTer6
XM_006714491.2:c.2049del	XP_006714554.1:p.Arg684AspfsTer6
XM_011514085.1:c.7476del	XP_011512387.1:p.Arg2493AspfsTer6
XM_011514086.1:c.7476del	XP_011512388.1:p.Arg2493AspfsTer6
XM_011514087.1:c.7476del	XP_011512389.1:p.Arg2493AspfsTer6
XM_011514088.1:c.7476del	XP_011512390.1:p.Arg2493AspfsTer6
XM_011514089.1:c.7476del	XP_011512391.1:p.Arg2493AspfsTer6
XM_011514090.1:c.7158del	XP_011512392.1:p.Arg2387AspfsTer6
XM_011514091.1:c.6804del	XP_011512393.1:p.Arg2269AspfsTer6
XM_011514092.1:c.7476del	XP_011512394.1:p.Arg2493AspfsTer6
XM_011514093.1:c.7476del	XP_011512395.1:p.Arg2493AspfsTer6
XM_011514094.1:c.4701del	XP_011512396.1:p.Arg1568AspfsTer6
XR_427661.2:n.7651del
XR_925644.1:n.7651del
XM_005248345.4:c.7476del	XP_005248402.1:p.Arg2493AspfsTer6
XM_005248346.4:c.7473del	XP_005248403.1:p.Arg2492AspfsTer6
XM_005248347.4:c.7473del	XP_005248404.1:p.Arg2492AspfsTer6
XM_005248349.4:c.7473del	XP_005248406.1:p.Arg2492AspfsTer6
XM_005248350.4:c.7347del	XP_005248407.1:p.Arg2450AspfsTer6
XM_006714491.3:c.2049del	XP_006714554.1:p.Arg684AspfsTer6
XM_011514085.3:c.7476del	XP_011512387.1:p.Arg2493AspfsTer6
XM_011514086.3:c.7476del	XP_011512388.1:p.Arg2493AspfsTer6
XM_011514087.2:c.7476del	XP_011512389.1:p.Arg2493AspfsTer6
XM_011514088.2:c.7476del	XP_011512390.1:p.Arg2493AspfsTer6
XM_011514089.2:c.7476del	XP_011512391.1:p.Arg2493AspfsTer6
XM_011514090.3:c.7158del	XP_011512392.1:p.Arg2387AspfsTer6
XM_011514092.2:c.7476del	XP_011512394.1:p.Arg2493AspfsTer6
XM_011514094.2:c.4701del	XP_011512396.1:p.Arg1568AspfsTer6
XM_017009760.1:c.7287del	XP_016865249.1:p.Arg2430AspfsTer6
XM_017009761.2:c.7287del	XP_016865250.1:p.Arg2430AspfsTer6
XM_017009763.1:c.6483del	XP_016865252.1:p.Arg2162AspfsTer6
XM_017009765.1:c.6288del	XP_016865254.1:p.Arg2097AspfsTer6
XM_017009766.1:c.4119del	XP_016865255.1:p.Arg1374AspfsTer6
XM_024446183.1:c.7287del	XP_024301951.1:p.Arg2430AspfsTer6
XM_024446184.1:c.7158del	XP_024301952.1:p.Arg2387AspfsTer6
XM_024446185.1:c.6804del	XP_024301953.1:p.Arg2269AspfsTer6
XM_024446186.1:c.6483del	XP_024301954.1:p.Arg2162AspfsTer6
XR_001742208.1:n.7700del
XR_002956171.1:n.7700del
XR_925644.2:n.7700del
NM_001384732.1:c.7476del MANE Select	NP_001371661.1:p.Arg2493AspfsTer6
NM_023073.4:c.7476del	NP_075561.3:p.Arg2493AspfsTer6