Canonical Allele Identifier: CA2578290619

Gene: CPLANE1

Linked Data

• gnomAD v4: 5-37154033-TAAAG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37154036_37154039del , CM000667.2:g.37154036_37154039del	GRCh38
NC_000005.9:g.37154138_37154141del , CM000667.1:g.37154138_37154141del	GRCh37
NC_000005.8:g.37189895_37189898del	NCBI36
NG_032772.1:g.100392_100395del
NG_032772.2:g.100392_100395del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000510830.2:n.1119-44_1119-41del
ENST00000651892.2:c.8120-44_8120-41del MANE Select	ENSP00000498265.2:n.8120-44_8120-41del
ENST00000425232.6:c.7958-44_7958-41del	ENSP00000389014.2:n.7958-44_7958-41del
ENST00000508244.5:c.7958-44_7958-41del	ENSP00000421690.1:n.7958-44_7958-41del
ENST00000509849.5:c.5132-44_5132-41del	ENSP00000426337.1:n.5132-44_5132-41del
ENST00000509957.5:n.362-44_362-41del
ENST00000511210.5:n.411-44_411-41del
ENST00000511824.2:c.1234-44_1234-41del
ENST00000514429.5:c.5156-44_5156-41del	ENSP00000424223.1:n.5156-44_5156-41del
ENST00000515380.1:n.372-44_372-41del
NM_023073.3:c.7958-44_7958-41del	NP_075561.3:n.7958-44_7958-41del
XM_005248345.2:c.8120-44_8120-41del	XP_005248402.1:n.8120-44_8120-41del
XM_005248346.2:c.8117-44_8117-41del	XP_005248403.1:n.8117-44_8117-41del
XM_005248347.2:c.8117-44_8117-41del	XP_005248404.1:n.8117-44_8117-41del
XM_005248349.2:c.8009-44_8009-41del	XP_005248406.1:n.8009-44_8009-41del
XM_005248350.2:c.7991-44_7991-41del	XP_005248407.1:n.7991-44_7991-41del
XM_005248353.3:c.4763-44_4763-41del	XP_005248410.1:n.4763-44_4763-41del
XM_006714489.2:c.8120-44_8120-41del	XP_006714552.1:n.8120-44_8120-41del
XM_006714491.2:c.2693-44_2693-41del	XP_006714554.1:n.2693-44_2693-41del
XM_011514085.1:c.8120-44_8120-41del	XP_011512387.1:n.8120-44_8120-41del
XM_011514086.1:c.8120-44_8120-41del	XP_011512388.1:n.8120-44_8120-41del
XM_011514087.1:c.8066-44_8066-41del	XP_011512389.1:n.8066-44_8066-41del
XM_011514088.1:c.8012-44_8012-41del	XP_011512390.1:n.8012-44_8012-41del
XM_011514089.1:c.8120-44_8120-41del	XP_011512391.1:n.8120-44_8120-41del
XM_011514090.1:c.7802-44_7802-41del	XP_011512392.1:n.7802-44_7802-41del
XM_011514091.1:c.7448-44_7448-41del	XP_011512393.1:n.7448-44_7448-41del
XM_011514092.1:c.8120-44_8120-41del	XP_011512394.1:n.8120-44_8120-41del
XM_011514094.1:c.5345-44_5345-41del	XP_011512396.1:n.5345-44_5345-41del
XR_427661.2:n.8295-44_8295-41del
XR_925644.1:n.8295-44_8295-41del
XM_005248345.4:c.8120-44_8120-41del	XP_005248402.1:n.8120-44_8120-41del
XM_005248346.4:c.8117-44_8117-41del	XP_005248403.1:n.8117-44_8117-41del
XM_005248347.4:c.8117-44_8117-41del	XP_005248404.1:n.8117-44_8117-41del
XM_005248349.4:c.8009-44_8009-41del	XP_005248406.1:n.8009-44_8009-41del
XM_005248350.4:c.7991-44_7991-41del	XP_005248407.1:n.7991-44_7991-41del
XM_006714491.3:c.2693-44_2693-41del	XP_006714554.1:n.2693-44_2693-41del
XM_011514085.3:c.8120-44_8120-41del	XP_011512387.1:n.8120-44_8120-41del
XM_011514086.3:c.8120-44_8120-41del	XP_011512388.1:n.8120-44_8120-41del
XM_011514087.2:c.8066-44_8066-41del	XP_011512389.1:n.8066-44_8066-41del
XM_011514088.2:c.8012-44_8012-41del	XP_011512390.1:n.8012-44_8012-41del
XM_011514089.2:c.8120-44_8120-41del	XP_011512391.1:n.8120-44_8120-41del
XM_011514090.3:c.7802-44_7802-41del	XP_011512392.1:n.7802-44_7802-41del
XM_011514092.2:c.8120-44_8120-41del	XP_011512394.1:n.8120-44_8120-41del
XM_011514094.2:c.5345-44_5345-41del	XP_011512396.1:n.5345-44_5345-41del
XM_017009760.1:c.7931-44_7931-41del	XP_016865249.1:n.7931-44_7931-41del
XM_017009761.2:c.7931-44_7931-41del	XP_016865250.1:n.7931-44_7931-41del
XM_017009763.1:c.7127-44_7127-41del	XP_016865252.1:n.7127-44_7127-41del
XM_017009765.1:c.6932-44_6932-41del	XP_016865254.1:n.6932-44_6932-41del
XM_017009766.1:c.4763-44_4763-41del	XP_016865255.1:n.4763-44_4763-41del
XM_024446183.1:c.7931-44_7931-41del	XP_024301951.1:n.7931-44_7931-41del
XM_024446184.1:c.7802-44_7802-41del	XP_024301952.1:n.7802-44_7802-41del
XM_024446185.1:c.7448-44_7448-41del	XP_024301953.1:n.7448-44_7448-41del
XM_024446186.1:c.7127-44_7127-41del	XP_024301954.1:n.7127-44_7127-41del
XR_001742208.1:n.8289-44_8289-41del
XR_002956171.1:n.8235-44_8235-41del
XR_925644.2:n.8344-44_8344-41del
NM_001384732.1:c.8120-44_8120-41del MANE Select	NP_001371661.1:n.8120-44_8120-41del
NM_023073.4:c.7958-44_7958-41del	NP_075561.3:n.7958-44_7958-41del