Canonical Allele Identifier: CA2765900780

Gene: CPLANE1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37122610_37122614del , CM000667.2:g.37122610_37122614del	GRCh38
NC_000005.9:g.37122712_37122716del , CM000667.1:g.37122712_37122716del	GRCh37
NC_000005.8:g.37158469_37158473del	NCBI36
NG_032772.1:g.131815_131819del
NG_032772.2:g.131815_131819del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651892.2:c.8959-126_8959-122del MANE Select	ENSP00000498265.2:n.8959-126_8959-122del
ENST00000676160.1:n.820-126_820-122del
ENST00000425232.6:c.8797-126_8797-122del	ENSP00000389014.2:n.8797-126_8797-122del
ENST00000508244.5:c.8797-126_8797-122del	ENSP00000421690.1:n.8797-126_8797-122del
ENST00000509849.5:c.5971-126_5971-122del	ENSP00000426337.1:n.5971-126_5971-122del
ENST00000512288.5:n.342-830_342-826del
ENST00000514429.5:c.5995-126_5995-122del	ENSP00000424223.1:n.5995-126_5995-122del
NM_023073.3:c.8797-126_8797-122del	NP_075561.3:n.8797-126_8797-122del
XM_005248345.2:c.8959-126_8959-122del	XP_005248402.1:n.8959-126_8959-122del
XM_005248346.2:c.8956-126_8956-122del	XP_005248403.1:n.8956-126_8956-122del
XM_005248347.2:c.8956-126_8956-122del	XP_005248404.1:n.8956-126_8956-122del
XM_005248349.2:c.8848-126_8848-122del	XP_005248406.1:n.8848-126_8848-122del
XM_005248350.2:c.8830-126_8830-122del	XP_005248407.1:n.8830-126_8830-122del
XM_005248353.3:c.5602-126_5602-122del	XP_005248410.1:n.5602-126_5602-122del
XM_006714489.2:c.8959-126_8959-122del	XP_006714552.1:n.8959-126_8959-122del
XM_006714491.2:c.3532-126_3532-122del	XP_006714554.1:n.3532-126_3532-122del
XM_011514085.1:c.8959-126_8959-122del	XP_011512387.1:n.8959-126_8959-122del
XM_011514086.1:c.8959-126_8959-122del	XP_011512388.1:n.8959-126_8959-122del
XM_011514087.1:c.8905-126_8905-122del	XP_011512389.1:n.8905-126_8905-122del
XM_011514088.1:c.8851-126_8851-122del	XP_011512390.1:n.8851-126_8851-122del
XM_011514089.1:c.8959-126_8959-122del	XP_011512391.1:n.8959-126_8959-122del
XM_011514090.1:c.8641-126_8641-122del	XP_011512392.1:n.8641-126_8641-122del
XM_011514091.1:c.8287-126_8287-122del	XP_011512393.1:n.8287-126_8287-122del
XM_011514092.1:c.8959-126_8959-122del	XP_011512394.1:n.8959-126_8959-122del
XM_011514094.1:c.6184-126_6184-122del	XP_011512396.1:n.6184-126_6184-122del
XR_427661.2:n.9134-126_9134-122del
XR_925644.1:n.9134-126_9134-122del
XM_005248345.4:c.8959-126_8959-122del	XP_005248402.1:n.8959-126_8959-122del
XM_005248346.4:c.8956-126_8956-122del	XP_005248403.1:n.8956-126_8956-122del
XM_005248347.4:c.8956-126_8956-122del	XP_005248404.1:n.8956-126_8956-122del
XM_005248349.4:c.8848-126_8848-122del	XP_005248406.1:n.8848-126_8848-122del
XM_005248350.4:c.8830-126_8830-122del	XP_005248407.1:n.8830-126_8830-122del
XM_006714491.3:c.3532-126_3532-122del	XP_006714554.1:n.3532-126_3532-122del
XM_011514085.3:c.8959-126_8959-122del	XP_011512387.1:n.8959-126_8959-122del
XM_011514086.3:c.8959-126_8959-122del	XP_011512388.1:n.8959-126_8959-122del
XM_011514087.2:c.8905-126_8905-122del	XP_011512389.1:n.8905-126_8905-122del
XM_011514088.2:c.8851-126_8851-122del	XP_011512390.1:n.8851-126_8851-122del
XM_011514089.2:c.8959-126_8959-122del	XP_011512391.1:n.8959-126_8959-122del
XM_011514090.3:c.8641-126_8641-122del	XP_011512392.1:n.8641-126_8641-122del
XM_011514092.2:c.8959-126_8959-122del	XP_011512394.1:n.8959-126_8959-122del
XM_011514094.2:c.6184-126_6184-122del	XP_011512396.1:n.6184-126_6184-122del
XM_017009760.1:c.8770-126_8770-122del	XP_016865249.1:n.8770-126_8770-122del
XM_017009761.2:c.8770-126_8770-122del	XP_016865250.1:n.8770-126_8770-122del
XM_017009763.1:c.7966-126_7966-122del	XP_016865252.1:n.7966-126_7966-122del
XM_017009765.1:c.7771-126_7771-122del	XP_016865254.1:n.7771-126_7771-122del
XM_017009766.1:c.5602-126_5602-122del	XP_016865255.1:n.5602-126_5602-122del
XM_024446183.1:c.8770-126_8770-122del	XP_024301951.1:n.8770-126_8770-122del
XM_024446184.1:c.8641-126_8641-122del	XP_024301952.1:n.8641-126_8641-122del
XM_024446185.1:c.8287-126_8287-122del	XP_024301953.1:n.8287-126_8287-122del
XM_024446186.1:c.7966-126_7966-122del	XP_024301954.1:n.7966-126_7966-122del
XR_925644.2:n.9183-126_9183-122del
NM_001384732.1:c.8959-126_8959-122del MANE Select	NP_001371661.1:n.8959-126_8959-122del
NM_023073.4:c.8797-126_8797-122del	NP_075561.3:n.8797-126_8797-122del