Canonical Allele Identifier: CA2673589614

Gene: CPLANE1

Linked Data

• gnomAD v4: 5-37227220-AAT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37227222_37227223del , CM000667.2:g.37227222_37227223del	GRCh38
NC_000005.9:g.37227324_37227325del , CM000667.1:g.37227324_37227325del	GRCh37
NC_000005.8:g.37263081_37263082del	NCBI36
NG_032772.1:g.27207_27208del
NG_032772.2:g.27207_27208del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000425232.7:c.1254+21_1254+22del
ENST00000651892.2:c.1521+21_1521+22del MANE Select	ENSP00000498265.2:n.1521+21_1521+22del
ENST00000675547.1:n.1591+21_1591+22del
ENST00000676290.1:n.1596+21_1596+22del
ENST00000425232.6:c.1521+21_1521+22del	ENSP00000389014.2:n.1521+21_1521+22del
ENST00000508244.5:c.1521+21_1521+22del	ENSP00000421690.1:n.1521+21_1521+22del
NM_023073.3:c.1521+21_1521+22del	NP_075561.3:n.1521+21_1521+22del
XM_005248345.2:c.1521+21_1521+22del	XP_005248402.1:n.1521+21_1521+22del
XM_005248346.2:c.1521+21_1521+22del	XP_005248403.1:n.1521+21_1521+22del
XM_005248347.2:c.1521+21_1521+22del	XP_005248404.1:n.1521+21_1521+22del
XM_005248349.2:c.1521+21_1521+22del	XP_005248406.1:n.1521+21_1521+22del
XM_005248350.2:c.1521+21_1521+22del	XP_005248407.1:n.1521+21_1521+22del
XM_006714489.2:c.1521+21_1521+22del	XP_006714552.1:n.1521+21_1521+22del
XM_011514085.1:c.1521+21_1521+22del	XP_011512387.1:n.1521+21_1521+22del
XM_011514086.1:c.1521+21_1521+22del	XP_011512388.1:n.1521+21_1521+22del
XM_011514087.1:c.1521+21_1521+22del	XP_011512389.1:n.1521+21_1521+22del
XM_011514088.1:c.1521+21_1521+22del	XP_011512390.1:n.1521+21_1521+22del
XM_011514089.1:c.1521+21_1521+22del	XP_011512391.1:n.1521+21_1521+22del
XM_011514090.1:c.1203+21_1203+22del	XP_011512392.1:n.1203+21_1203+22del
XM_011514091.1:c.849+21_849+22del	XP_011512393.1:n.849+21_849+22del
XM_011514092.1:c.1521+21_1521+22del	XP_011512394.1:n.1521+21_1521+22del
XM_011514093.1:c.1521+21_1521+22del	XP_011512395.1:n.1521+21_1521+22del
XR_427661.2:n.1696+21_1696+22del
XR_925644.1:n.1696+21_1696+22del
XM_005248345.4:c.1521+21_1521+22del	XP_005248402.1:n.1521+21_1521+22del
XM_005248346.4:c.1521+21_1521+22del	XP_005248403.1:n.1521+21_1521+22del
XM_005248347.4:c.1521+21_1521+22del	XP_005248404.1:n.1521+21_1521+22del
XM_005248349.4:c.1521+21_1521+22del	XP_005248406.1:n.1521+21_1521+22del
XM_005248350.4:c.1521+21_1521+22del	XP_005248407.1:n.1521+21_1521+22del
XM_011514085.3:c.1521+21_1521+22del	XP_011512387.1:n.1521+21_1521+22del
XM_011514086.3:c.1521+21_1521+22del	XP_011512388.1:n.1521+21_1521+22del
XM_011514087.2:c.1521+21_1521+22del	XP_011512389.1:n.1521+21_1521+22del
XM_011514088.2:c.1521+21_1521+22del	XP_011512390.1:n.1521+21_1521+22del
XM_011514089.2:c.1521+21_1521+22del	XP_011512391.1:n.1521+21_1521+22del
XM_011514090.3:c.1203+21_1203+22del	XP_011512392.1:n.1203+21_1203+22del
XM_011514092.2:c.1521+21_1521+22del	XP_011512394.1:n.1521+21_1521+22del
XM_017009760.1:c.1332+21_1332+22del	XP_016865249.1:n.1332+21_1332+22del
XM_017009761.2:c.1332+21_1332+22del	XP_016865250.1:n.1332+21_1332+22del
XM_017009763.1:c.528+21_528+22del	XP_016865252.1:n.528+21_528+22del
XM_017009765.1:c.333+21_333+22del	XP_016865254.1:n.333+21_333+22del
XM_024446183.1:c.1332+21_1332+22del	XP_024301951.1:n.1332+21_1332+22del
XM_024446184.1:c.1203+21_1203+22del	XP_024301952.1:n.1203+21_1203+22del
XM_024446185.1:c.849+21_849+22del	XP_024301953.1:n.849+21_849+22del
XM_024446186.1:c.528+21_528+22del	XP_024301954.1:n.528+21_528+22del
XR_001742208.1:n.1745+21_1745+22del
XR_002956171.1:n.1745+21_1745+22del
XR_925644.2:n.1745+21_1745+22del
NM_001384732.1:c.1521+21_1521+22del MANE Select	NP_001371661.1:n.1521+21_1521+22del
NM_023073.4:c.1521+21_1521+22del	NP_075561.3:n.1521+21_1521+22del