Canonical Allele Identifier: CA824872745

Gene: CUL7 KLC4

Linked Data

• dbSNP Id: rs1440765242
• gnomAD v4: 6-43048590-CAGG-C
• MyVariant Identifiers: chr6:g.43016329_43016331del (hg19) ; chr6:g.43048591_43048593del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.43048593_43048595del , CM000668.2:g.43048593_43048595del	GRCh38
NC_000006.11:g.43016331_43016333del , CM000668.1:g.43016331_43016333del	GRCh37
NC_000006.10:g.43124309_43124311del	NCBI36
NG_016205.1:g.10353_10355del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000674112.2:c.1826-24_1826-22del (CUL7)	ENSP00000501166.2:n.1826-24_1826-22del
ENST00000685042.1:c.1826-24_1826-22del (CUL7)	ENSP00000509871.1:n.1826-24_1826-22del
ENST00000686442.1:n.2109-24_2109-22del (CUL7)
ENST00000687225.1:c.1922-24_1922-22del (CUL7)	ENSP00000509364.1:n.1922-24_1922-22del
ENST00000688302.1:n.2109-24_2109-22del (CUL7)
ENST00000689256.1:n.2125-24_2125-22del (CUL7)
ENST00000690231.1:c.1826-24_1826-22del (CUL7)	ENSP00000508461.1:n.1826-24_1826-22del
ENST00000265348.9:c.1826-24_1826-22del (CUL7) MANE Select	ENSP00000265348.4:n.1826-24_1826-22del
ENST00000673753.1:n.2160-24_2160-22del (CUL7)
ENST00000674100.1:c.1922-24_1922-22del (CUL7)	ENSP00000501292.1:n.1922-24_1922-22del
ENST00000674112.1:c.318-24_318-22del (CUL7)
ENST00000674134.1:c.1922-24_1922-22del (CUL7)	ENSP00000501068.1:n.1922-24_1922-22del
ENST00000265348.7:c.1826-24_1826-22del (CUL7)	ENSP00000265348.3:n.1826-24_1826-22del
ENST00000467906.5:c.-553+5085_-553+5087del (KLC4)	ENSP00000418759.1:n.-553+5085_-553+5087del
ENST00000535468.1:c.2078-24_2078-22del (CUL7)	ENSP00000438788.1:n.2078-24_2078-22del
NM_001168370.1:c.2078-24_2078-22del (CUL7)	NP_001161842.1:n.2078-24_2078-22del
NM_014780.4:c.1826-24_1826-22del (CUL7)	NP_055595.2:n.1826-24_1826-22del
XM_005249503.1:c.1982-24_1982-22del (CUL7)	XP_005249560.1:n.1982-24_1982-22del
XM_006715285.1:c.1922-24_1922-22del (CUL7)	XP_006715348.1:n.1922-24_1922-22del
XM_011515019.1:c.2078-24_2078-22del (CUL7)	XP_011513321.1:n.2078-24_2078-22del
XM_011515020.1:c.1982-24_1982-22del (CUL7)	XP_011513322.1:n.1982-24_1982-22del
XM_011515021.1:c.-357-24_-357-22del (CUL7)	XP_011513323.1:n.-357-24_-357-22del
XM_005249503.3:c.1982-24_1982-22del (CUL7)	XP_005249560.1:n.1982-24_1982-22del
XM_006715285.2:c.1922-24_1922-22del (CUL7)	XP_006715348.1:n.1922-24_1922-22del
XM_011515019.2:c.2078-24_2078-22del (CUL7)	XP_011513321.1:n.2078-24_2078-22del
XM_011515020.2:c.1982-24_1982-22del (CUL7)	XP_011513322.1:n.1982-24_1982-22del
XM_017011533.1:c.2105-24_2105-22del (CUL7)	XP_016867022.1:n.2105-24_2105-22del
XM_017011534.1:c.2105-24_2105-22del (CUL7)	XP_016867023.1:n.2105-24_2105-22del
XM_017011535.1:c.2009-24_2009-22del (CUL7)	XP_016867024.1:n.2009-24_2009-22del
XM_017011536.2:c.1949-24_1949-22del (CUL7)	XP_016867025.1:n.1949-24_1949-22del
XM_017011537.2:c.1922-24_1922-22del (CUL7)	XP_016867026.1:n.1922-24_1922-22del
XM_017011538.2:c.1853-24_1853-22del (CUL7)	XP_016867027.1:n.1853-24_1853-22del
XM_017011539.2:c.1826-24_1826-22del (CUL7)	XP_016867028.1:n.1826-24_1826-22del
XM_017011540.1:c.2105-24_2105-22del (CUL7)	XP_016867029.1:n.2105-24_2105-22del
NM_001168370.2:c.1922-24_1922-22del (CUL7)	NP_001161842.2:n.1922-24_1922-22del
NM_001374872.1:c.1922-24_1922-22del (CUL7)	NP_001361801.1:n.1922-24_1922-22del
NM_001374873.1:c.1826-24_1826-22del (CUL7)	NP_001361802.1:n.1826-24_1826-22del
NM_001374874.1:c.1826-24_1826-22del (CUL7)	NP_001361803.1:n.1826-24_1826-22del
NM_014780.5:c.1826-24_1826-22del (CUL7) MANE Select	NP_055595.2:n.1826-24_1826-22del