Canonical Allele Identifier: CA2765900785

Gene: CPLANE1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37122611_37122619del , CM000667.2:g.37122611_37122619del	GRCh38
NC_000005.9:g.37122713_37122721del , CM000667.1:g.37122713_37122721del	GRCh37
NC_000005.8:g.37158470_37158478del	NCBI36
NG_032772.1:g.131810_131818del
NG_032772.2:g.131810_131818del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651892.2:c.8959-131_8959-123del MANE Select	ENSP00000498265.2:n.8959-131_8959-123del
ENST00000676160.1:n.820-131_820-123del
ENST00000425232.6:c.8797-131_8797-123del	ENSP00000389014.2:n.8797-131_8797-123del
ENST00000508244.5:c.8797-131_8797-123del	ENSP00000421690.1:n.8797-131_8797-123del
ENST00000509849.5:c.5971-131_5971-123del	ENSP00000426337.1:n.5971-131_5971-123del
ENST00000512288.5:n.342-835_342-827del
ENST00000514429.5:c.5995-131_5995-123del	ENSP00000424223.1:n.5995-131_5995-123del
NM_023073.3:c.8797-131_8797-123del	NP_075561.3:n.8797-131_8797-123del
XM_005248345.2:c.8959-131_8959-123del	XP_005248402.1:n.8959-131_8959-123del
XM_005248346.2:c.8956-131_8956-123del	XP_005248403.1:n.8956-131_8956-123del
XM_005248347.2:c.8956-131_8956-123del	XP_005248404.1:n.8956-131_8956-123del
XM_005248349.2:c.8848-131_8848-123del	XP_005248406.1:n.8848-131_8848-123del
XM_005248350.2:c.8830-131_8830-123del	XP_005248407.1:n.8830-131_8830-123del
XM_005248353.3:c.5602-131_5602-123del	XP_005248410.1:n.5602-131_5602-123del
XM_006714489.2:c.8959-131_8959-123del	XP_006714552.1:n.8959-131_8959-123del
XM_006714491.2:c.3532-131_3532-123del	XP_006714554.1:n.3532-131_3532-123del
XM_011514085.1:c.8959-131_8959-123del	XP_011512387.1:n.8959-131_8959-123del
XM_011514086.1:c.8959-131_8959-123del	XP_011512388.1:n.8959-131_8959-123del
XM_011514087.1:c.8905-131_8905-123del	XP_011512389.1:n.8905-131_8905-123del
XM_011514088.1:c.8851-131_8851-123del	XP_011512390.1:n.8851-131_8851-123del
XM_011514089.1:c.8959-131_8959-123del	XP_011512391.1:n.8959-131_8959-123del
XM_011514090.1:c.8641-131_8641-123del	XP_011512392.1:n.8641-131_8641-123del
XM_011514091.1:c.8287-131_8287-123del	XP_011512393.1:n.8287-131_8287-123del
XM_011514092.1:c.8959-131_8959-123del	XP_011512394.1:n.8959-131_8959-123del
XM_011514094.1:c.6184-131_6184-123del	XP_011512396.1:n.6184-131_6184-123del
XR_427661.2:n.9134-131_9134-123del
XR_925644.1:n.9134-131_9134-123del
XM_005248345.4:c.8959-131_8959-123del	XP_005248402.1:n.8959-131_8959-123del
XM_005248346.4:c.8956-131_8956-123del	XP_005248403.1:n.8956-131_8956-123del
XM_005248347.4:c.8956-131_8956-123del	XP_005248404.1:n.8956-131_8956-123del
XM_005248349.4:c.8848-131_8848-123del	XP_005248406.1:n.8848-131_8848-123del
XM_005248350.4:c.8830-131_8830-123del	XP_005248407.1:n.8830-131_8830-123del
XM_006714491.3:c.3532-131_3532-123del	XP_006714554.1:n.3532-131_3532-123del
XM_011514085.3:c.8959-131_8959-123del	XP_011512387.1:n.8959-131_8959-123del
XM_011514086.3:c.8959-131_8959-123del	XP_011512388.1:n.8959-131_8959-123del
XM_011514087.2:c.8905-131_8905-123del	XP_011512389.1:n.8905-131_8905-123del
XM_011514088.2:c.8851-131_8851-123del	XP_011512390.1:n.8851-131_8851-123del
XM_011514089.2:c.8959-131_8959-123del	XP_011512391.1:n.8959-131_8959-123del
XM_011514090.3:c.8641-131_8641-123del	XP_011512392.1:n.8641-131_8641-123del
XM_011514092.2:c.8959-131_8959-123del	XP_011512394.1:n.8959-131_8959-123del
XM_011514094.2:c.6184-131_6184-123del	XP_011512396.1:n.6184-131_6184-123del
XM_017009760.1:c.8770-131_8770-123del	XP_016865249.1:n.8770-131_8770-123del
XM_017009761.2:c.8770-131_8770-123del	XP_016865250.1:n.8770-131_8770-123del
XM_017009763.1:c.7966-131_7966-123del	XP_016865252.1:n.7966-131_7966-123del
XM_017009765.1:c.7771-131_7771-123del	XP_016865254.1:n.7771-131_7771-123del
XM_017009766.1:c.5602-131_5602-123del	XP_016865255.1:n.5602-131_5602-123del
XM_024446183.1:c.8770-131_8770-123del	XP_024301951.1:n.8770-131_8770-123del
XM_024446184.1:c.8641-131_8641-123del	XP_024301952.1:n.8641-131_8641-123del
XM_024446185.1:c.8287-131_8287-123del	XP_024301953.1:n.8287-131_8287-123del
XM_024446186.1:c.7966-131_7966-123del	XP_024301954.1:n.7966-131_7966-123del
XR_925644.2:n.9183-131_9183-123del
NM_001384732.1:c.8959-131_8959-123del MANE Select	NP_001371661.1:n.8959-131_8959-123del
NM_023073.4:c.8797-131_8797-123del	NP_075561.3:n.8797-131_8797-123del