Canonical Allele Identifier: CA1539665452

Gene: CPLANE1

Linked Data

• dbSNP Id: rs1762965475
• gnomAD v4: 5-37122582-ACT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37122583_37122584del , CM000667.2:g.37122583_37122584del	GRCh38
NC_000005.9:g.37122685_37122686del , CM000667.1:g.37122685_37122686del	GRCh37
NC_000005.8:g.37158442_37158443del	NCBI36
NG_032772.1:g.131845_131846del
NG_032772.2:g.131845_131846del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651892.2:c.8959-96_8959-95del MANE Select	ENSP00000498265.2:n.8959-96_8959-95del
ENST00000676160.1:n.820-96_820-95del
ENST00000425232.6:c.8797-96_8797-95del	ENSP00000389014.2:n.8797-96_8797-95del
ENST00000508244.5:c.8797-96_8797-95del	ENSP00000421690.1:n.8797-96_8797-95del
ENST00000509849.5:c.5971-96_5971-95del	ENSP00000426337.1:n.5971-96_5971-95del
ENST00000512288.5:n.342-800_342-799del
ENST00000514429.5:c.5995-96_5995-95del	ENSP00000424223.1:n.5995-96_5995-95del
NM_023073.3:c.8797-96_8797-95del	NP_075561.3:n.8797-96_8797-95del
XM_005248345.2:c.8959-96_8959-95del	XP_005248402.1:n.8959-96_8959-95del
XM_005248346.2:c.8956-96_8956-95del	XP_005248403.1:n.8956-96_8956-95del
XM_005248347.2:c.8956-96_8956-95del	XP_005248404.1:n.8956-96_8956-95del
XM_005248349.2:c.8848-96_8848-95del	XP_005248406.1:n.8848-96_8848-95del
XM_005248350.2:c.8830-96_8830-95del	XP_005248407.1:n.8830-96_8830-95del
XM_005248353.3:c.5602-96_5602-95del	XP_005248410.1:n.5602-96_5602-95del
XM_006714489.2:c.8959-96_8959-95del	XP_006714552.1:n.8959-96_8959-95del
XM_006714491.2:c.3532-96_3532-95del	XP_006714554.1:n.3532-96_3532-95del
XM_011514085.1:c.8959-96_8959-95del	XP_011512387.1:n.8959-96_8959-95del
XM_011514086.1:c.8959-96_8959-95del	XP_011512388.1:n.8959-96_8959-95del
XM_011514087.1:c.8905-96_8905-95del	XP_011512389.1:n.8905-96_8905-95del
XM_011514088.1:c.8851-96_8851-95del	XP_011512390.1:n.8851-96_8851-95del
XM_011514089.1:c.8959-96_8959-95del	XP_011512391.1:n.8959-96_8959-95del
XM_011514090.1:c.8641-96_8641-95del	XP_011512392.1:n.8641-96_8641-95del
XM_011514091.1:c.8287-96_8287-95del	XP_011512393.1:n.8287-96_8287-95del
XM_011514092.1:c.8959-96_8959-95del	XP_011512394.1:n.8959-96_8959-95del
XM_011514094.1:c.6184-96_6184-95del	XP_011512396.1:n.6184-96_6184-95del
XR_427661.2:n.9134-96_9134-95del
XR_925644.1:n.9134-96_9134-95del
XM_005248345.4:c.8959-96_8959-95del	XP_005248402.1:n.8959-96_8959-95del
XM_005248346.4:c.8956-96_8956-95del	XP_005248403.1:n.8956-96_8956-95del
XM_005248347.4:c.8956-96_8956-95del	XP_005248404.1:n.8956-96_8956-95del
XM_005248349.4:c.8848-96_8848-95del	XP_005248406.1:n.8848-96_8848-95del
XM_005248350.4:c.8830-96_8830-95del	XP_005248407.1:n.8830-96_8830-95del
XM_006714491.3:c.3532-96_3532-95del	XP_006714554.1:n.3532-96_3532-95del
XM_011514085.3:c.8959-96_8959-95del	XP_011512387.1:n.8959-96_8959-95del
XM_011514086.3:c.8959-96_8959-95del	XP_011512388.1:n.8959-96_8959-95del
XM_011514087.2:c.8905-96_8905-95del	XP_011512389.1:n.8905-96_8905-95del
XM_011514088.2:c.8851-96_8851-95del	XP_011512390.1:n.8851-96_8851-95del
XM_011514089.2:c.8959-96_8959-95del	XP_011512391.1:n.8959-96_8959-95del
XM_011514090.3:c.8641-96_8641-95del	XP_011512392.1:n.8641-96_8641-95del
XM_011514092.2:c.8959-96_8959-95del	XP_011512394.1:n.8959-96_8959-95del
XM_011514094.2:c.6184-96_6184-95del	XP_011512396.1:n.6184-96_6184-95del
XM_017009760.1:c.8770-96_8770-95del	XP_016865249.1:n.8770-96_8770-95del
XM_017009761.2:c.8770-96_8770-95del	XP_016865250.1:n.8770-96_8770-95del
XM_017009763.1:c.7966-96_7966-95del	XP_016865252.1:n.7966-96_7966-95del
XM_017009765.1:c.7771-96_7771-95del	XP_016865254.1:n.7771-96_7771-95del
XM_017009766.1:c.5602-96_5602-95del	XP_016865255.1:n.5602-96_5602-95del
XM_024446183.1:c.8770-96_8770-95del	XP_024301951.1:n.8770-96_8770-95del
XM_024446184.1:c.8641-96_8641-95del	XP_024301952.1:n.8641-96_8641-95del
XM_024446185.1:c.8287-96_8287-95del	XP_024301953.1:n.8287-96_8287-95del
XM_024446186.1:c.7966-96_7966-95del	XP_024301954.1:n.7966-96_7966-95del
XR_925644.2:n.9183-96_9183-95del
NM_001384732.1:c.8959-96_8959-95del MANE Select	NP_001371661.1:n.8959-96_8959-95del
NM_023073.4:c.8797-96_8797-95del	NP_075561.3:n.8797-96_8797-95del