Canonical Allele Identifier: CA2673579805

Gene: CPLANE1

Linked Data

• gnomAD v4: 5-37122579-AAC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37122582_37122583del , CM000667.2:g.37122582_37122583del	GRCh38
NC_000005.9:g.37122684_37122685del , CM000667.1:g.37122684_37122685del	GRCh37
NC_000005.8:g.37158441_37158442del	NCBI36
NG_032772.1:g.131848_131849del
NG_032772.2:g.131848_131849del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651892.2:c.8959-93_8959-92del MANE Select	ENSP00000498265.2:n.8959-93_8959-92del
ENST00000676160.1:n.820-93_820-92del
ENST00000425232.6:c.8797-93_8797-92del	ENSP00000389014.2:n.8797-93_8797-92del
ENST00000508244.5:c.8797-93_8797-92del	ENSP00000421690.1:n.8797-93_8797-92del
ENST00000509849.5:c.5971-93_5971-92del	ENSP00000426337.1:n.5971-93_5971-92del
ENST00000512288.5:n.342-797_342-796del
ENST00000514429.5:c.5995-93_5995-92del	ENSP00000424223.1:n.5995-93_5995-92del
NM_023073.3:c.8797-93_8797-92del	NP_075561.3:n.8797-93_8797-92del
XM_005248345.2:c.8959-93_8959-92del	XP_005248402.1:n.8959-93_8959-92del
XM_005248346.2:c.8956-93_8956-92del	XP_005248403.1:n.8956-93_8956-92del
XM_005248347.2:c.8956-93_8956-92del	XP_005248404.1:n.8956-93_8956-92del
XM_005248349.2:c.8848-93_8848-92del	XP_005248406.1:n.8848-93_8848-92del
XM_005248350.2:c.8830-93_8830-92del	XP_005248407.1:n.8830-93_8830-92del
XM_005248353.3:c.5602-93_5602-92del	XP_005248410.1:n.5602-93_5602-92del
XM_006714489.2:c.8959-93_8959-92del	XP_006714552.1:n.8959-93_8959-92del
XM_006714491.2:c.3532-93_3532-92del	XP_006714554.1:n.3532-93_3532-92del
XM_011514085.1:c.8959-93_8959-92del	XP_011512387.1:n.8959-93_8959-92del
XM_011514086.1:c.8959-93_8959-92del	XP_011512388.1:n.8959-93_8959-92del
XM_011514087.1:c.8905-93_8905-92del	XP_011512389.1:n.8905-93_8905-92del
XM_011514088.1:c.8851-93_8851-92del	XP_011512390.1:n.8851-93_8851-92del
XM_011514089.1:c.8959-93_8959-92del	XP_011512391.1:n.8959-93_8959-92del
XM_011514090.1:c.8641-93_8641-92del	XP_011512392.1:n.8641-93_8641-92del
XM_011514091.1:c.8287-93_8287-92del	XP_011512393.1:n.8287-93_8287-92del
XM_011514092.1:c.8959-93_8959-92del	XP_011512394.1:n.8959-93_8959-92del
XM_011514094.1:c.6184-93_6184-92del	XP_011512396.1:n.6184-93_6184-92del
XR_427661.2:n.9134-93_9134-92del
XR_925644.1:n.9134-93_9134-92del
XM_005248345.4:c.8959-93_8959-92del	XP_005248402.1:n.8959-93_8959-92del
XM_005248346.4:c.8956-93_8956-92del	XP_005248403.1:n.8956-93_8956-92del
XM_005248347.4:c.8956-93_8956-92del	XP_005248404.1:n.8956-93_8956-92del
XM_005248349.4:c.8848-93_8848-92del	XP_005248406.1:n.8848-93_8848-92del
XM_005248350.4:c.8830-93_8830-92del	XP_005248407.1:n.8830-93_8830-92del
XM_006714491.3:c.3532-93_3532-92del	XP_006714554.1:n.3532-93_3532-92del
XM_011514085.3:c.8959-93_8959-92del	XP_011512387.1:n.8959-93_8959-92del
XM_011514086.3:c.8959-93_8959-92del	XP_011512388.1:n.8959-93_8959-92del
XM_011514087.2:c.8905-93_8905-92del	XP_011512389.1:n.8905-93_8905-92del
XM_011514088.2:c.8851-93_8851-92del	XP_011512390.1:n.8851-93_8851-92del
XM_011514089.2:c.8959-93_8959-92del	XP_011512391.1:n.8959-93_8959-92del
XM_011514090.3:c.8641-93_8641-92del	XP_011512392.1:n.8641-93_8641-92del
XM_011514092.2:c.8959-93_8959-92del	XP_011512394.1:n.8959-93_8959-92del
XM_011514094.2:c.6184-93_6184-92del	XP_011512396.1:n.6184-93_6184-92del
XM_017009760.1:c.8770-93_8770-92del	XP_016865249.1:n.8770-93_8770-92del
XM_017009761.2:c.8770-93_8770-92del	XP_016865250.1:n.8770-93_8770-92del
XM_017009763.1:c.7966-93_7966-92del	XP_016865252.1:n.7966-93_7966-92del
XM_017009765.1:c.7771-93_7771-92del	XP_016865254.1:n.7771-93_7771-92del
XM_017009766.1:c.5602-93_5602-92del	XP_016865255.1:n.5602-93_5602-92del
XM_024446183.1:c.8770-93_8770-92del	XP_024301951.1:n.8770-93_8770-92del
XM_024446184.1:c.8641-93_8641-92del	XP_024301952.1:n.8641-93_8641-92del
XM_024446185.1:c.8287-93_8287-92del	XP_024301953.1:n.8287-93_8287-92del
XM_024446186.1:c.7966-93_7966-92del	XP_024301954.1:n.7966-93_7966-92del
XR_925644.2:n.9183-93_9183-92del
NM_001384732.1:c.8959-93_8959-92del MANE Select	NP_001371661.1:n.8959-93_8959-92del
NM_023073.4:c.8797-93_8797-92del	NP_075561.3:n.8797-93_8797-92del