Canonical Allele Identifier: CA2673584242

Gene: CPLANE1

Linked Data

• gnomAD v4: 5-37153924-AATAG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37153928_37153931del , CM000667.2:g.37153928_37153931del	GRCh38
NC_000005.9:g.37154030_37154033del , CM000667.1:g.37154030_37154033del	GRCh37
NC_000005.8:g.37189787_37189790del	NCBI36
NG_032772.1:g.100501_100504del
NG_032772.2:g.100501_100504del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000510830.2:n.1184_1187del
ENST00000651892.2:c.8185_8188del MANE Select	ENSP00000498265.2:p.Leu2729CysfsTer22
ENST00000425232.6:c.8023_8026del	ENSP00000389014.2:p.Leu2675CysfsTer22
ENST00000508244.5:c.8023_8026del	ENSP00000421690.1:p.Leu2675CysfsTer22
ENST00000509849.5:c.5197_5200del	ENSP00000426337.1:p.Leu1733CysfsTer22
ENST00000509957.5:n.427_430del
ENST00000511210.5:n.476_479del
ENST00000511824.2:c.1299_1302del
ENST00000514429.5:c.5221_5224del	ENSP00000424223.1:p.Leu1741CysfsTer22
ENST00000515380.1:n.437_440del
NM_023073.3:c.8023_8026del	NP_075561.3:p.Leu2675CysfsTer22
XM_005248345.2:c.8185_8188del	XP_005248402.1:p.Leu2729CysfsTer22
XM_005248346.2:c.8182_8185del	XP_005248403.1:p.Leu2728CysfsTer22
XM_005248347.2:c.8182_8185del	XP_005248404.1:p.Leu2728CysfsTer22
XM_005248349.2:c.8074_8077del	XP_005248406.1:p.Leu2692CysfsTer22
XM_005248350.2:c.8056_8059del	XP_005248407.1:p.Leu2686CysfsTer22
XM_005248353.3:c.4828_4831del	XP_005248410.1:p.Leu1610CysfsTer22
XM_006714489.2:c.8185_8188del	XP_006714552.1:p.Leu2729CysfsTer22
XM_006714491.2:c.2758_2761del	XP_006714554.1:p.Leu920CysfsTer22
XM_011514085.1:c.8185_8188del	XP_011512387.1:p.Leu2729CysfsTer22
XM_011514086.1:c.8185_8188del	XP_011512388.1:p.Leu2729CysfsTer22
XM_011514087.1:c.8131_8134del	XP_011512389.1:p.Leu2711CysfsTer22
XM_011514088.1:c.8077_8080del	XP_011512390.1:p.Leu2693CysfsTer22
XM_011514089.1:c.8185_8188del	XP_011512391.1:p.Leu2729CysfsTer22
XM_011514090.1:c.7867_7870del	XP_011512392.1:p.Leu2623CysfsTer22
XM_011514091.1:c.7513_7516del	XP_011512393.1:p.Leu2505CysfsTer22
XM_011514092.1:c.8185_8188del	XP_011512394.1:p.Leu2729CysfsTer22
XM_011514094.1:c.5410_5413del	XP_011512396.1:p.Leu1804CysfsTer22
XR_427661.2:n.8360_8363del
XR_925644.1:n.8360_8363del
XM_005248345.4:c.8185_8188del	XP_005248402.1:p.Leu2729CysfsTer22
XM_005248346.4:c.8182_8185del	XP_005248403.1:p.Leu2728CysfsTer22
XM_005248347.4:c.8182_8185del	XP_005248404.1:p.Leu2728CysfsTer22
XM_005248349.4:c.8074_8077del	XP_005248406.1:p.Leu2692CysfsTer22
XM_005248350.4:c.8056_8059del	XP_005248407.1:p.Leu2686CysfsTer22
XM_006714491.3:c.2758_2761del	XP_006714554.1:p.Leu920CysfsTer22
XM_011514085.3:c.8185_8188del	XP_011512387.1:p.Leu2729CysfsTer22
XM_011514086.3:c.8185_8188del	XP_011512388.1:p.Leu2729CysfsTer22
XM_011514087.2:c.8131_8134del	XP_011512389.1:p.Leu2711CysfsTer22
XM_011514088.2:c.8077_8080del	XP_011512390.1:p.Leu2693CysfsTer22
XM_011514089.2:c.8185_8188del	XP_011512391.1:p.Leu2729CysfsTer22
XM_011514090.3:c.7867_7870del	XP_011512392.1:p.Leu2623CysfsTer22
XM_011514092.2:c.8185_8188del	XP_011512394.1:p.Leu2729CysfsTer22
XM_011514094.2:c.5410_5413del	XP_011512396.1:p.Leu1804CysfsTer22
XM_017009760.1:c.7996_7999del	XP_016865249.1:p.Leu2666CysfsTer22
XM_017009761.2:c.7996_7999del	XP_016865250.1:p.Leu2666CysfsTer22
XM_017009763.1:c.7192_7195del	XP_016865252.1:p.Leu2398CysfsTer22
XM_017009765.1:c.6997_7000del	XP_016865254.1:p.Leu2333CysfsTer22
XM_017009766.1:c.4828_4831del	XP_016865255.1:p.Leu1610CysfsTer22
XM_024446183.1:c.7996_7999del	XP_024301951.1:p.Leu2666CysfsTer22
XM_024446184.1:c.7867_7870del	XP_024301952.1:p.Leu2623CysfsTer22
XM_024446185.1:c.7513_7516del	XP_024301953.1:p.Leu2505CysfsTer22
XM_024446186.1:c.7192_7195del	XP_024301954.1:p.Leu2398CysfsTer22
XR_001742208.1:n.8354_8357del
XR_002956171.1:n.8300_8303del
XR_925644.2:n.8409_8412del
NM_001384732.1:c.8185_8188del MANE Select	NP_001371661.1:p.Leu2729CysfsTer22
NM_023073.4:c.8023_8026del	NP_075561.3:p.Leu2675CysfsTer22