Canonical Allele Identifier: CA2673589572

Gene: CPLANE1

Linked Data

• gnomAD v4: 5-37227151-TTTCTC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37227155_37227159del , CM000667.2:g.37227155_37227159del	GRCh38
NC_000005.9:g.37227257_37227261del , CM000667.1:g.37227257_37227261del	GRCh37
NC_000005.8:g.37263014_37263018del	NCBI36
NG_032772.1:g.27273_27277del
NG_032772.2:g.27273_27277del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000425232.7:c.1255-83_1255-79del
ENST00000651892.2:c.1522-83_1522-79del MANE Select	ENSP00000498265.2:n.1522-83_1522-79del
ENST00000675547.1:n.1592-83_1592-79del
ENST00000676290.1:n.1597-83_1597-79del
ENST00000425232.6:c.1522-83_1522-79del	ENSP00000389014.2:n.1522-83_1522-79del
ENST00000508244.5:c.1522-83_1522-79del	ENSP00000421690.1:n.1522-83_1522-79del
NM_023073.3:c.1522-83_1522-79del	NP_075561.3:n.1522-83_1522-79del
XM_005248345.2:c.1522-83_1522-79del	XP_005248402.1:n.1522-83_1522-79del
XM_005248346.2:c.1522-83_1522-79del	XP_005248403.1:n.1522-83_1522-79del
XM_005248347.2:c.1522-83_1522-79del	XP_005248404.1:n.1522-83_1522-79del
XM_005248349.2:c.1522-83_1522-79del	XP_005248406.1:n.1522-83_1522-79del
XM_005248350.2:c.1522-83_1522-79del	XP_005248407.1:n.1522-83_1522-79del
XM_006714489.2:c.1522-83_1522-79del	XP_006714552.1:n.1522-83_1522-79del
XM_011514085.1:c.1522-83_1522-79del	XP_011512387.1:n.1522-83_1522-79del
XM_011514086.1:c.1522-83_1522-79del	XP_011512388.1:n.1522-83_1522-79del
XM_011514087.1:c.1522-83_1522-79del	XP_011512389.1:n.1522-83_1522-79del
XM_011514088.1:c.1522-83_1522-79del	XP_011512390.1:n.1522-83_1522-79del
XM_011514089.1:c.1522-83_1522-79del	XP_011512391.1:n.1522-83_1522-79del
XM_011514090.1:c.1204-83_1204-79del	XP_011512392.1:n.1204-83_1204-79del
XM_011514091.1:c.850-83_850-79del	XP_011512393.1:n.850-83_850-79del
XM_011514092.1:c.1522-83_1522-79del	XP_011512394.1:n.1522-83_1522-79del
XM_011514093.1:c.1522-83_1522-79del	XP_011512395.1:n.1522-83_1522-79del
XR_427661.2:n.1697-83_1697-79del
XR_925644.1:n.1697-83_1697-79del
XM_005248345.4:c.1522-83_1522-79del	XP_005248402.1:n.1522-83_1522-79del
XM_005248346.4:c.1522-83_1522-79del	XP_005248403.1:n.1522-83_1522-79del
XM_005248347.4:c.1522-83_1522-79del	XP_005248404.1:n.1522-83_1522-79del
XM_005248349.4:c.1522-83_1522-79del	XP_005248406.1:n.1522-83_1522-79del
XM_005248350.4:c.1522-83_1522-79del	XP_005248407.1:n.1522-83_1522-79del
XM_011514085.3:c.1522-83_1522-79del	XP_011512387.1:n.1522-83_1522-79del
XM_011514086.3:c.1522-83_1522-79del	XP_011512388.1:n.1522-83_1522-79del
XM_011514087.2:c.1522-83_1522-79del	XP_011512389.1:n.1522-83_1522-79del
XM_011514088.2:c.1522-83_1522-79del	XP_011512390.1:n.1522-83_1522-79del
XM_011514089.2:c.1522-83_1522-79del	XP_011512391.1:n.1522-83_1522-79del
XM_011514090.3:c.1204-83_1204-79del	XP_011512392.1:n.1204-83_1204-79del
XM_011514092.2:c.1522-83_1522-79del	XP_011512394.1:n.1522-83_1522-79del
XM_017009760.1:c.1333-83_1333-79del	XP_016865249.1:n.1333-83_1333-79del
XM_017009761.2:c.1333-83_1333-79del	XP_016865250.1:n.1333-83_1333-79del
XM_017009763.1:c.529-83_529-79del	XP_016865252.1:n.529-83_529-79del
XM_017009765.1:c.334-83_334-79del	XP_016865254.1:n.334-83_334-79del
XM_024446183.1:c.1333-83_1333-79del	XP_024301951.1:n.1333-83_1333-79del
XM_024446184.1:c.1204-83_1204-79del	XP_024301952.1:n.1204-83_1204-79del
XM_024446185.1:c.850-83_850-79del	XP_024301953.1:n.850-83_850-79del
XM_024446186.1:c.529-83_529-79del	XP_024301954.1:n.529-83_529-79del
XR_001742208.1:n.1746-83_1746-79del
XR_002956171.1:n.1746-83_1746-79del
XR_925644.2:n.1746-83_1746-79del
NM_001384732.1:c.1522-83_1522-79del MANE Select	NP_001371661.1:n.1522-83_1522-79del
NM_023073.4:c.1522-83_1522-79del	NP_075561.3:n.1522-83_1522-79del