Canonical Allele Identifier: CA277731

Gene: CPLANE1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37170235_37170236del , CM000667.2:g.37170235_37170236del	GRCh38
NC_000005.9:g.37170337_37170338del , CM000667.1:g.37170337_37170338del	GRCh37
NC_000005.8:g.37206094_37206095del	NCBI36
NG_032772.1:g.84195_84196del
NG_032772.2:g.84195_84196del

Transcript Alleles

HGVS	Amino-acid Change
NM_001384732.1:c.6269_6270del MANE Select	NP_001371661.1:p.Val2090AlafsTer15
ENST00000651892.2:c.6269_6270del MANE Select	ENSP00000498265.2:p.Val2090AlafsTer15
NM_023073.3:c.6269_6270del	NP_075561.3:p.Val2090AlafsTer15
NM_023073.4:c.6269_6270del	NP_075561.3:p.Val2090AlafsTer15
ENST00000425232.6:c.6269_6270del	ENSP00000389014.2:p.Val2090AlafsTer15
ENST00000425232.7:c.5773_5774del
ENST00000508244.5:c.6269_6270del	ENSP00000421690.1:p.Val2090AlafsTer15
ENST00000509849.5:c.3281_3282del	ENSP00000426337.1:p.Val1094AlafsTer15
ENST00000511781.1:n.482_483del
ENST00000514429.5:c.3413_3414del	ENSP00000424223.1:p.Val1138AlafsTer15
ENST00000676304.1:n.995_996del
XM_005248345.2:c.6269_6270del	XP_005248402.1:p.Val2090AlafsTer15
XM_005248345.4:c.6269_6270del	XP_005248402.1:p.Val2090AlafsTer15
XM_005248346.2:c.6266_6267del	XP_005248403.1:p.Val2089AlafsTer15
XM_005248346.4:c.6266_6267del	XP_005248403.1:p.Val2089AlafsTer15
XM_005248347.2:c.6266_6267del	XP_005248404.1:p.Val2089AlafsTer15
XM_005248347.4:c.6266_6267del	XP_005248404.1:p.Val2089AlafsTer15
XM_005248349.2:c.6266_6267del	XP_005248406.1:p.Val2089AlafsTer15
XM_005248349.4:c.6266_6267del	XP_005248406.1:p.Val2089AlafsTer15
XM_005248350.2:c.6140_6141del	XP_005248407.1:p.Val2047AlafsTer15
XM_005248350.4:c.6140_6141del	XP_005248407.1:p.Val2047AlafsTer15
XM_005248353.3:c.2912_2913del	XP_005248410.1:p.Val971AlafsTer15
XM_006714489.2:c.6269_6270del	XP_006714552.1:p.Val2090AlafsTer15
XM_006714491.2:c.842_843del	XP_006714554.1:p.Val281AlafsTer15
XM_006714491.3:c.842_843del	XP_006714554.1:p.Val281AlafsTer15
XM_011514085.1:c.6269_6270del	XP_011512387.1:p.Val2090AlafsTer15
XM_011514085.3:c.6269_6270del	XP_011512387.1:p.Val2090AlafsTer15
XM_011514086.1:c.6269_6270del	XP_011512388.1:p.Val2090AlafsTer15
XM_011514086.3:c.6269_6270del	XP_011512388.1:p.Val2090AlafsTer15
XM_011514087.1:c.6269_6270del	XP_011512389.1:p.Val2090AlafsTer15
XM_011514087.2:c.6269_6270del	XP_011512389.1:p.Val2090AlafsTer15
XM_011514088.1:c.6269_6270del	XP_011512390.1:p.Val2090AlafsTer15
XM_011514088.2:c.6269_6270del	XP_011512390.1:p.Val2090AlafsTer15
XM_011514089.1:c.6269_6270del	XP_011512391.1:p.Val2090AlafsTer15
XM_011514089.2:c.6269_6270del	XP_011512391.1:p.Val2090AlafsTer15
XM_011514090.1:c.5951_5952del	XP_011512392.1:p.Val1984AlafsTer15
XM_011514090.3:c.5951_5952del	XP_011512392.1:p.Val1984AlafsTer15
XM_011514091.1:c.5597_5598del	XP_011512393.1:p.Val1866AlafsTer15
XM_011514092.1:c.6269_6270del	XP_011512394.1:p.Val2090AlafsTer15
XM_011514092.2:c.6269_6270del	XP_011512394.1:p.Val2090AlafsTer15
XM_011514093.1:c.6269_6270del	XP_011512395.1:p.Val2090AlafsTer15
XM_011514094.1:c.3494_3495del	XP_011512396.1:p.Val1165AlafsTer15
XM_011514094.2:c.3494_3495del	XP_011512396.1:p.Val1165AlafsTer15
XM_017009760.1:c.6080_6081del	XP_016865249.1:p.Val2027AlafsTer15
XM_017009761.2:c.6080_6081del	XP_016865250.1:p.Val2027AlafsTer15
XM_017009763.1:c.5276_5277del	XP_016865252.1:p.Val1759AlafsTer15
XM_017009765.1:c.5081_5082del	XP_016865254.1:p.Val1694AlafsTer15
XM_017009766.1:c.2912_2913del	XP_016865255.1:p.Val971AlafsTer15
XM_024446183.1:c.6080_6081del	XP_024301951.1:p.Val2027AlafsTer15
XM_024446184.1:c.5951_5952del	XP_024301952.1:p.Val1984AlafsTer15
XM_024446185.1:c.5597_5598del	XP_024301953.1:p.Val1866AlafsTer15
XM_024446186.1:c.5276_5277del	XP_024301954.1:p.Val1759AlafsTer15
XR_001742208.1:n.6493_6494del
XR_002956171.1:n.6493_6494del
XR_427661.2:n.6444_6445del
XR_925644.1:n.6444_6445del
XR_925644.2:n.6493_6494del