Canonical Allele Identifier: CA2673584436

Gene: CPLANE1

Linked Data

• gnomAD v4: 5-37157390-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37157395del , CM000667.2:g.37157395del	GRCh38
NC_000005.9:g.37157497del , CM000667.1:g.37157497del	GRCh37
NC_000005.8:g.37193254del	NCBI36
NG_032772.1:g.97038del
NG_032772.2:g.97038del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000510830.2:n.1040del
ENST00000651892.2:c.8041del MANE Select	ENSP00000498265.2:p.Ser2681AlafsTer2
ENST00000425232.6:c.7957+279del	ENSP00000389014.2:n.7957+279del
ENST00000508244.5:c.7957+279del	ENSP00000421690.1:n.7957+279del
ENST00000509849.5:c.5053del	ENSP00000426337.1:p.Ser1685AlafsTer2
ENST00000509957.5:n.283del
ENST00000511210.5:n.332del
ENST00000511824.2:c.1155del
ENST00000514429.5:c.5155+279del	ENSP00000424223.1:n.5155+279del
ENST00000515380.1:n.293del
NM_023073.3:c.7957+279del	NP_075561.3:n.7957+279del
XM_005248345.2:c.8041del	XP_005248402.1:p.Ser2681AlafsTer2
XM_005248346.2:c.8038del	XP_005248403.1:p.Ser2680AlafsTer2
XM_005248347.2:c.8038del	XP_005248404.1:p.Ser2680AlafsTer2
XM_005248349.2:c.8008+279del	XP_005248406.1:n.8008+279del
XM_005248350.2:c.7912del	XP_005248407.1:p.Ser2638AlafsTer2
XM_005248353.3:c.4684del	XP_005248410.1:p.Ser1562AlafsTer2
XM_006714489.2:c.8041del	XP_006714552.1:p.Ser2681AlafsTer2
XM_006714491.2:c.2614del	XP_006714554.1:p.Ser872AlafsTer2
XM_011514085.1:c.8041del	XP_011512387.1:p.Ser2681AlafsTer2
XM_011514086.1:c.8041del	XP_011512388.1:p.Ser2681AlafsTer2
XM_011514087.1:c.7987del	XP_011512389.1:p.Ser2663AlafsTer2
XM_011514088.1:c.8011+279del	XP_011512390.1:n.8011+279del
XM_011514089.1:c.8041del	XP_011512391.1:p.Ser2681AlafsTer2
XM_011514090.1:c.7723del	XP_011512392.1:p.Ser2575AlafsTer2
XM_011514091.1:c.7369del	XP_011512393.1:p.Ser2457AlafsTer2
XM_011514092.1:c.8041del	XP_011512394.1:p.Ser2681AlafsTer2
XM_011514094.1:c.5266del	XP_011512396.1:p.Ser1756AlafsTer2
XR_427661.2:n.8216del
XR_925644.1:n.8216del
XM_005248345.4:c.8041del	XP_005248402.1:p.Ser2681AlafsTer2
XM_005248346.4:c.8038del	XP_005248403.1:p.Ser2680AlafsTer2
XM_005248347.4:c.8038del	XP_005248404.1:p.Ser2680AlafsTer2
XM_005248349.4:c.8008+279del	XP_005248406.1:n.8008+279del
XM_005248350.4:c.7912del	XP_005248407.1:p.Ser2638AlafsTer2
XM_006714491.3:c.2614del	XP_006714554.1:p.Ser872AlafsTer2
XM_011514085.3:c.8041del	XP_011512387.1:p.Ser2681AlafsTer2
XM_011514086.3:c.8041del	XP_011512388.1:p.Ser2681AlafsTer2
XM_011514087.2:c.7987del	XP_011512389.1:p.Ser2663AlafsTer2
XM_011514088.2:c.8011+279del	XP_011512390.1:n.8011+279del
XM_011514089.2:c.8041del	XP_011512391.1:p.Ser2681AlafsTer2
XM_011514090.3:c.7723del	XP_011512392.1:p.Ser2575AlafsTer2
XM_011514092.2:c.8041del	XP_011512394.1:p.Ser2681AlafsTer2
XM_011514094.2:c.5266del	XP_011512396.1:p.Ser1756AlafsTer2
XM_017009760.1:c.7852del	XP_016865249.1:p.Ser2618AlafsTer2
XM_017009761.2:c.7852del	XP_016865250.1:p.Ser2618AlafsTer2
XM_017009763.1:c.7048del	XP_016865252.1:p.Ser2350AlafsTer2
XM_017009765.1:c.6853del	XP_016865254.1:p.Ser2285AlafsTer2
XM_017009766.1:c.4684del	XP_016865255.1:p.Ser1562AlafsTer2
XM_024446183.1:c.7852del	XP_024301951.1:p.Ser2618AlafsTer2
XM_024446184.1:c.7723del	XP_024301952.1:p.Ser2575AlafsTer2
XM_024446185.1:c.7369del	XP_024301953.1:p.Ser2457AlafsTer2
XM_024446186.1:c.7048del	XP_024301954.1:p.Ser2350AlafsTer2
XR_001742208.1:n.8210del
XR_002956171.1:n.8156del
XR_925644.2:n.8265del
NM_001384732.1:c.8041del MANE Select	NP_001371661.1:p.Ser2681AlafsTer2
NM_023073.4:c.7957+279del	NP_075561.3:n.7957+279del