Canonical Allele Identifier: CA2573139656

Gene: CPLANE1

Linked Data

• ClinVar Variation Id: 1422168
• ClinVar RCV Id: RCV001919397
• dbSNP Id: rs2150448548
• gnomAD v4: 5-37227344-T-TGA

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37227344_37227345insGA , CM000667.2:g.37227344_37227345insGA	GRCh38
NC_000005.9:g.37227446_37227447insGA , CM000667.1:g.37227446_37227447insGA	GRCh37
NC_000005.8:g.37263203_37263204insGA	NCBI36
NG_032772.1:g.27084_27085insTC
NG_032772.2:g.27084_27085insTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000425232.7:c.1152_1153insTC
ENST00000651892.2:c.1419_1420insTC MANE Select	ENSP00000498265.2:p.Leu475AlafsTer3
ENST00000675547.1:n.1489_1490insTC
ENST00000676290.1:n.1494_1495insTC
ENST00000425232.6:c.1419_1420insTC	ENSP00000389014.2:p.Leu475AlafsTer3
ENST00000508244.5:c.1419_1420insTC	ENSP00000421690.1:p.Leu475AlafsTer3
NM_023073.3:c.1419_1420insTC	NP_075561.3:p.Leu475AlafsTer3
XM_005248345.2:c.1419_1420insTC	XP_005248402.1:p.Leu475AlafsTer3
XM_005248346.2:c.1419_1420insTC	XP_005248403.1:p.Leu475AlafsTer3
XM_005248347.2:c.1419_1420insTC	XP_005248404.1:p.Leu475AlafsTer3
XM_005248349.2:c.1419_1420insTC	XP_005248406.1:p.Leu475AlafsTer3
XM_005248350.2:c.1419_1420insTC	XP_005248407.1:p.Leu475AlafsTer3
XM_006714489.2:c.1419_1420insTC	XP_006714552.1:p.Leu475AlafsTer3
XM_011514085.1:c.1419_1420insTC	XP_011512387.1:p.Leu475AlafsTer3
XM_011514086.1:c.1419_1420insTC	XP_011512388.1:p.Leu475AlafsTer3
XM_011514087.1:c.1419_1420insTC	XP_011512389.1:p.Leu475AlafsTer3
XM_011514088.1:c.1419_1420insTC	XP_011512390.1:p.Leu475AlafsTer3
XM_011514089.1:c.1419_1420insTC	XP_011512391.1:p.Leu475AlafsTer3
XM_011514090.1:c.1101_1102insTC	XP_011512392.1:p.Leu369AlafsTer3
XM_011514091.1:c.747_748insTC	XP_011512393.1:p.Leu251AlafsTer3
XM_011514092.1:c.1419_1420insTC	XP_011512394.1:p.Leu475AlafsTer3
XM_011514093.1:c.1419_1420insTC	XP_011512395.1:p.Leu475AlafsTer3
XR_427661.2:n.1594_1595insTC
XR_925644.1:n.1594_1595insTC
XM_005248345.4:c.1419_1420insTC	XP_005248402.1:p.Leu475AlafsTer3
XM_005248346.4:c.1419_1420insTC	XP_005248403.1:p.Leu475AlafsTer3
XM_005248347.4:c.1419_1420insTC	XP_005248404.1:p.Leu475AlafsTer3
XM_005248349.4:c.1419_1420insTC	XP_005248406.1:p.Leu475AlafsTer3
XM_005248350.4:c.1419_1420insTC	XP_005248407.1:p.Leu475AlafsTer3
XM_011514085.3:c.1419_1420insTC	XP_011512387.1:p.Leu475AlafsTer3
XM_011514086.3:c.1419_1420insTC	XP_011512388.1:p.Leu475AlafsTer3
XM_011514087.2:c.1419_1420insTC	XP_011512389.1:p.Leu475AlafsTer3
XM_011514088.2:c.1419_1420insTC	XP_011512390.1:p.Leu475AlafsTer3
XM_011514089.2:c.1419_1420insTC	XP_011512391.1:p.Leu475AlafsTer3
XM_011514090.3:c.1101_1102insTC	XP_011512392.1:p.Leu369AlafsTer3
XM_011514092.2:c.1419_1420insTC	XP_011512394.1:p.Leu475AlafsTer3
XM_017009760.1:c.1230_1231insTC	XP_016865249.1:p.Leu412AlafsTer3
XM_017009761.2:c.1230_1231insTC	XP_016865250.1:p.Leu412AlafsTer3
XM_017009763.1:c.426_427insTC	XP_016865252.1:p.Leu144AlafsTer3
XM_017009765.1:c.231_232insTC	XP_016865254.1:p.Leu79AlafsTer3
XM_024446183.1:c.1230_1231insTC	XP_024301951.1:p.Leu412AlafsTer3
XM_024446184.1:c.1101_1102insTC	XP_024301952.1:p.Leu369AlafsTer3
XM_024446185.1:c.747_748insTC	XP_024301953.1:p.Leu251AlafsTer3
XM_024446186.1:c.426_427insTC	XP_024301954.1:p.Leu144AlafsTer3
XR_001742208.1:n.1643_1644insTC
XR_002956171.1:n.1643_1644insTC
XR_925644.2:n.1643_1644insTC
NM_001384732.1:c.1419_1420insTC MANE Select	NP_001371661.1:p.Leu475AlafsTer3
NM_023073.4:c.1419_1420insTC	NP_075561.3:p.Leu475AlafsTer3