Canonical Allele Identifier: CA2673580016

Gene: CPLANE1

Linked Data

• gnomAD v4: 5-37125031-AT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37125034del , CM000667.2:g.37125034del	GRCh38
NC_000005.9:g.37125136del , CM000667.1:g.37125136del	GRCh37
NC_000005.8:g.37160893del	NCBI36
NG_032772.1:g.129397del
NG_032772.2:g.129397del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000510830.2:n.2169del
ENST00000651892.2:c.8958+212del MANE Select	ENSP00000498265.2:n.8958+212del
ENST00000676160.1:n.819+212del
ENST00000425232.6:c.8796+212del	ENSP00000389014.2:n.8796+212del
ENST00000508244.5:c.8796+212del	ENSP00000421690.1:n.8796+212del
ENST00000509849.5:c.5970+212del	ENSP00000426337.1:n.5970+212del
ENST00000509957.5:n.4140-19del
ENST00000512288.5:n.342-3248del
ENST00000514429.5:c.5994+212del	ENSP00000424223.1:n.5994+212del
NM_023073.3:c.8796+212del	NP_075561.3:n.8796+212del
XM_005248345.2:c.8958+212del	XP_005248402.1:n.8958+212del
XM_005248346.2:c.8955+212del	XP_005248403.1:n.8955+212del
XM_005248347.2:c.8955+212del	XP_005248404.1:n.8955+212del
XM_005248349.2:c.8847+212del	XP_005248406.1:n.8847+212del
XM_005248350.2:c.8829+212del	XP_005248407.1:n.8829+212del
XM_005248353.3:c.5601+212del	XP_005248410.1:n.5601+212del
XM_006714489.2:c.8958+212del	XP_006714552.1:n.8958+212del
XM_006714491.2:c.3531+212del	XP_006714554.1:n.3531+212del
XM_011514085.1:c.8958+212del	XP_011512387.1:n.8958+212del
XM_011514086.1:c.8958+212del	XP_011512388.1:n.8958+212del
XM_011514087.1:c.8904+212del	XP_011512389.1:n.8904+212del
XM_011514088.1:c.8850+212del	XP_011512390.1:n.8850+212del
XM_011514089.1:c.8958+212del	XP_011512391.1:n.8958+212del
XM_011514090.1:c.8640+212del	XP_011512392.1:n.8640+212del
XM_011514091.1:c.8286+212del	XP_011512393.1:n.8286+212del
XM_011514092.1:c.8958+212del	XP_011512394.1:n.8958+212del
XM_011514094.1:c.6183+212del	XP_011512396.1:n.6183+212del
XR_427661.2:n.9133+212del
XR_925644.1:n.9133+212del
XM_005248345.4:c.8958+212del	XP_005248402.1:n.8958+212del
XM_005248346.4:c.8955+212del	XP_005248403.1:n.8955+212del
XM_005248347.4:c.8955+212del	XP_005248404.1:n.8955+212del
XM_005248349.4:c.8847+212del	XP_005248406.1:n.8847+212del
XM_005248350.4:c.8829+212del	XP_005248407.1:n.8829+212del
XM_006714491.3:c.3531+212del	XP_006714554.1:n.3531+212del
XM_011514085.3:c.8958+212del	XP_011512387.1:n.8958+212del
XM_011514086.3:c.8958+212del	XP_011512388.1:n.8958+212del
XM_011514087.2:c.8904+212del	XP_011512389.1:n.8904+212del
XM_011514088.2:c.8850+212del	XP_011512390.1:n.8850+212del
XM_011514089.2:c.8958+212del	XP_011512391.1:n.8958+212del
XM_011514090.3:c.8640+212del	XP_011512392.1:n.8640+212del
XM_011514092.2:c.8958+212del	XP_011512394.1:n.8958+212del
XM_011514094.2:c.6183+212del	XP_011512396.1:n.6183+212del
XM_017009760.1:c.8769+212del	XP_016865249.1:n.8769+212del
XM_017009761.2:c.8769+212del	XP_016865250.1:n.8769+212del
XM_017009763.1:c.7965+212del	XP_016865252.1:n.7965+212del
XM_017009765.1:c.7770+212del	XP_016865254.1:n.7770+212del
XM_017009766.1:c.5601+212del	XP_016865255.1:n.5601+212del
XM_024446183.1:c.8769+212del	XP_024301951.1:n.8769+212del
XM_024446184.1:c.8640+212del	XP_024301952.1:n.8640+212del
XM_024446185.1:c.8286+212del	XP_024301953.1:n.8286+212del
XM_024446186.1:c.7965+212del	XP_024301954.1:n.7965+212del
XR_925644.2:n.9182+212del
NM_001384732.1:c.8958+212del MANE Select	NP_001371661.1:n.8958+212del
NM_023073.4:c.8796+212del	NP_075561.3:n.8796+212del