Canonical Allele Identifier: CA567150396

Gene: CUL7 KLC4

Linked Data

• gnomAD v2: 6-43020478-C-CATGCCACCTTGGCGACGCAGCACCTCCTTCTTTGCGCCGCCCTTTCCTCTTCCTTTAGTCCTCCCTCCTGCGGAAGTGCCCTCCCCGTTTCCCAAAGTCAGAACTGGAAAAGACCTT
• gnomAD v4: 6-43052740-C-CATGCCACCTTGGCGACGCAGCACCTCCTTCTTTGCGCCGCCCTTTCCTCTTCCTTTAGTCCTCCCTCCTGCGGAAGTGCCCTCCCCGTTTCCCAAAGTCAGAACTGGAAAAGACCTT
• MyVariant Identifiers: chr6:g.43020478_43020479insATGCCACCTTGGCGACGCAGCACCTCCTTCTTTGCGCCGCCCTTTCCTCTTCCTTTAGTCCTCCCTCCTGCGGAAGTGCCCTCCCCGTTTCCCAAAGTCAGAACTGGAAAAGACCTT (hg19) ; chr6:g.43052740_43052741insATGCCACCTTGGCGACGCAGCACCTCCTTCTTTGCGCCGCCCTTTCCTCTTCCTTTAGTCCTCCCTCCTGCGGAAGTGCCCTCCCCGTTTCCCAAAGTCAGAACTGGAAAAGACCTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.43052740_43052741insATGCCACCTTGGCGACGCAGCACCTCCTTCTTTGCGCCGCCCTTTCCTCTTCCTTTAGTCCTCCCTCCTGCGGAAGTGCCCTCCCCGTTTCCCAAAGTCAGAACTGGAAAAGACCTT , CM000668.2:g.43052740_43052741insATGCCACCTTGGCGACGCAGCACCTCCTTCTTTGCGCCGCCCTTTCCTCTTCCTTTAGTCCTCCCTCCTGCGGAAGTGCCCTCCCCGTTTCCCAAAGTCAGAACTGGAAAAGACCTT	GRCh38
NC_000006.11:g.43020478_43020479insATGCCACCTTGGCGACGCAGCACCTCCTTCTTTGCGCCGCCCTTTCCTCTTCCTTTAGTCCTCCCTCCTGCGGAAGTGCCCTCCCCGTTTCCCAAAGTCAGAACTGGAAAAGACCTT , CM000668.1:g.43020478_43020479insATGCCACCTTGGCGACGCAGCACCTCCTTCTTTGCGCCGCCCTTTCCTCTTCCTTTAGTCCTCCCTCCTGCGGAAGTGCCCTCCCCGTTTCCCAAAGTCAGAACTGGAAAAGACCTT	GRCh37
NC_000006.10:g.43128456_43128457insATGCCACCTTGGCGACGCAGCACCTCCTTCTTTGCGCCGCCCTTTCCTCTTCCTTTAGTCCTCCCTCCTGCGGAAGTGCCCTCCCCGTTTCCCAAAGTCAGAACTGGAAAAGACCTT	NCBI36
NG_016205.1:g.6205_6206insAAGGTCTTTTCCAGTTCTGACTTTGGGAAACGGGGAGGGCACTTCCGCAGGAGGGAGGACTAAAGGAAGAGGAAAGGGCGGCGCAAAGAAGGAGGTGCTGCGTCGCCAAGGTGGCAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000674112.2:c.48_49insAAGGTCTTTTCCAGTTCTGACTTTGGGAAACGGGGAGGGCACTTCCGCAGGAGGGAGGACTAAAGGAAGAGGAAAGGGCGGCGCAAAGAAGGAGGTGCTGCGTCGCCAAGGTGGCAT (CUL7)
ENST00000683160.1:n.334_335insAAGGTCTTTTCCAGTTCTGACTTTGGGAAACGGGGAGGGCACTTCCGCAGGAGGGAGGACTAAAGGAAGAGGAAAGGGCGGCGCAAAGAAGGAGGTGCTGCGTCGCCAAGGTGGCAT (CUL7)
ENST00000683493.1:n.89_90insAAGGTCTTTTCCAGTTCTGACTTTGGGAAACGGGGAGGGCACTTCCGCAGGAGGGAGGACTAAAGGAAGAGGAAAGGGCGGCGCAAAGAAGGAGGTGCTGCGTCGCCAAGGTGGCAT (CUL7)
ENST00000685042.1:c.48_49insAAGGTCTTTTCCAGTTCTGACTTTGGGAAACGGGGAGGGCACTTCCGCAGGAGGGAGGACTAAAGGAAGAGGAAAGGGCGGCGCAAAGAAGGAGGTGCTGCGTCGCCAAGGTGGCAT (CUL7)
ENST00000686442.1:n.331_332insAAGGTCTTTTCCAGTTCTGACTTTGGGAAACGGGGAGGGCACTTCCGCAGGAGGGAGGACTAAAGGAAGAGGAAAGGGCGGCGCAAAGAAGGAGGTGCTGCGTCGCCAAGGTGGCAT (CUL7)
ENST00000687225.1:c.48_49insAAGGTCTTTTCCAGTTCTGACTTTGGGAAACGGGGAGGGCACTTCCGCAGGAGGGAGGACTAAAGGAAGAGGAAAGGGCGGCGCAAAGAAGGAGGTGCTGCGTCGCCAAGGTGGCAT (CUL7)
ENST00000688302.1:n.331_332insAAGGTCTTTTCCAGTTCTGACTTTGGGAAACGGGGAGGGCACTTCCGCAGGAGGGAGGACTAAAGGAAGAGGAAAGGGCGGCGCAAAGAAGGAGGTGCTGCGTCGCCAAGGTGGCAT (CUL7)
ENST00000688707.1:c.48_49insAAGGTCTTTTCCAGTTCTGACTTTGGGAAACGGGGAGGGCACTTCCGCAGGAGGGAGGACTAAAGGAAGAGGAAAGGGCGGCGCAAAGAAGGAGGTGCTGCGTCGCCAAGGTGGCAT (CUL7)
ENST00000689256.1:n.251_252insAAGGTCTTTTCCAGTTCTGACTTTGGGAAACGGGGAGGGCACTTCCGCAGGAGGGAGGACTAAAGGAAGAGGAAAGGGCGGCGCAAAGAAGGAGGTGCTGCGTCGCCAAGGTGGCAT (CUL7)
ENST00000690231.1:c.48_49insAAGGTCTTTTCCAGTTCTGACTTTGGGAAACGGGGAGGGCACTTCCGCAGGAGGGAGGACTAAAGGAAGAGGAAAGGGCGGCGCAAAGAAGGAGGTGCTGCGTCGCCAAGGTGGCAT (CUL7)
ENST00000265348.9:c.48_49insAAGGTCTTTTCCAGTTCTGACTTTGGGAAACGGGGAGGGCACTTCCGCAGGAGGGAGGACTAAAGGAAGAGGAAAGGGCGGCGCAAAGAAGGAGGTGCTGCGTCGCCAAGGTGGCAT (CUL7)
ENST00000673753.1:n.286_287insAAGGTCTTTTCCAGTTCTGACTTTGGGAAACGGGGAGGGCACTTCCGCAGGAGGGAGGACTAAAGGAAGAGGAAAGGGCGGCGCAAAGAAGGAGGTGCTGCGTCGCCAAGGTGGCAT (CUL7)
ENST00000673761.1:c.689_690insAAGGTCTTTTCCAGTTCTGACTTTGGGAAACGGGGAGGGCACTTCCGCAGGAGGGAGGACTAAAGGAAGAGGAAAGGGCGGCGCAAAGAAGGAGGTGCTGCGTCGCCAAGGTGGCAT	ENSP00000501018.1:p.Pro230_Ala231insArgSerPheProValLeuThrLeuG...
ENST00000674100.1:c.48_49insAAGGTCTTTTCCAGTTCTGACTTTGGGAAACGGGGAGGGCACTTCCGCAGGAGGGAGGACTAAAGGAAGAGGAAAGGGCGGCGCAAAGAAGGAGGTGCTGCGTCGCCAAGGTGGCAT (CUL7)
ENST00000674134.1:c.48_49insAAGGTCTTTTCCAGTTCTGACTTTGGGAAACGGGGAGGGCACTTCCGCAGGAGGGAGGACTAAAGGAAGAGGAAAGGGCGGCGCAAAGAAGGAGGTGCTGCGTCGCCAAGGTGGCAT (CUL7)
ENST00000265348.7:c.48_49insAAGGTCTTTTCCAGTTCTGACTTTGGGAAACGGGGAGGGCACTTCCGCAGGAGGGAGGACTAAAGGAAGAGGAAAGGGCGGCGCAAAGAAGGAGGTGCTGCGTCGCCAAGGTGGCAT (CUL7)
ENST00000467906.5:c.-552-6286_-552-6285insATGCCACCTTGGCGACGCAGCACCTCCTTCTTTGCGCCGCCCTTTCCTCTTCCTTTAGTCCTCCCTCCTGCGGAAGTGCCCTCCCCGTTTCCCAAAGTCAGAACTGGAAAAGACCTT (KLC4)	ENSP00000418759.1:n.-552-6286_-552-6285insATGCCACCTTGGCGACGCA...
ENST00000535468.1:c.204_205insAAGGTCTTTTCCAGTTCTGACTTTGGGAAACGGGGAGGGCACTTCCGCAGGAGGGAGGACTAAAGGAAGAGGAAAGGGCGGCGCAAAGAAGGAGGTGCTGCGTCGCCAAGGTGGCAT (CUL7)
NM_001168370.1:c.204_205insAAGGTCTTTTCCAGTTCTGACTTTGGGAAACGGGGAGGGCACTTCCGCAGGAGGGAGGACTAAAGGAAGAGGAAAGGGCGGCGCAAAGAAGGAGGTGCTGCGTCGCCAAGGTGGCAT (CUL7)
NM_014780.4:c.48_49insAAGGTCTTTTCCAGTTCTGACTTTGGGAAACGGGGAGGGCACTTCCGCAGGAGGGAGGACTAAAGGAAGAGGAAAGGGCGGCGCAAAGAAGGAGGTGCTGCGTCGCCAAGGTGGCAT (CUL7)
XM_005249503.1:c.204_205insAAGGTCTTTTCCAGTTCTGACTTTGGGAAACGGGGAGGGCACTTCCGCAGGAGGGAGGACTAAAGGAAGAGGAAAGGGCGGCGCAAAGAAGGAGGTGCTGCGTCGCCAAGGTGGCAT (CUL7)
XM_006715285.1:c.48_49insAAGGTCTTTTCCAGTTCTGACTTTGGGAAACGGGGAGGGCACTTCCGCAGGAGGGAGGACTAAAGGAAGAGGAAAGGGCGGCGCAAAGAAGGAGGTGCTGCGTCGCCAAGGTGGCAT (CUL7)
XM_011515019.1:c.204_205insAAGGTCTTTTCCAGTTCTGACTTTGGGAAACGGGGAGGGCACTTCCGCAGGAGGGAGGACTAAAGGAAGAGGAAAGGGCGGCGCAAAGAAGGAGGTGCTGCGTCGCCAAGGTGGCAT (CUL7)
XM_011515020.1:c.204_205insAAGGTCTTTTCCAGTTCTGACTTTGGGAAACGGGGAGGGCACTTCCGCAGGAGGGAGGACTAAAGGAAGAGGAAAGGGCGGCGCAAAGAAGGAGGTGCTGCGTCGCCAAGGTGGCAT (CUL7)
XM_005249503.3:c.204_205insAAGGTCTTTTCCAGTTCTGACTTTGGGAAACGGGGAGGGCACTTCCGCAGGAGGGAGGACTAAAGGAAGAGGAAAGGGCGGCGCAAAGAAGGAGGTGCTGCGTCGCCAAGGTGGCAT (CUL7)
XM_006715285.2:c.48_49insAAGGTCTTTTCCAGTTCTGACTTTGGGAAACGGGGAGGGCACTTCCGCAGGAGGGAGGACTAAAGGAAGAGGAAAGGGCGGCGCAAAGAAGGAGGTGCTGCGTCGCCAAGGTGGCAT (CUL7)
XM_011515019.2:c.204_205insAAGGTCTTTTCCAGTTCTGACTTTGGGAAACGGGGAGGGCACTTCCGCAGGAGGGAGGACTAAAGGAAGAGGAAAGGGCGGCGCAAAGAAGGAGGTGCTGCGTCGCCAAGGTGGCAT (CUL7)
XM_011515020.2:c.204_205insAAGGTCTTTTCCAGTTCTGACTTTGGGAAACGGGGAGGGCACTTCCGCAGGAGGGAGGACTAAAGGAAGAGGAAAGGGCGGCGCAAAGAAGGAGGTGCTGCGTCGCCAAGGTGGCAT (CUL7)
XM_017011533.1:c.204_205insAAGGTCTTTTCCAGTTCTGACTTTGGGAAACGGGGAGGGCACTTCCGCAGGAGGGAGGACTAAAGGAAGAGGAAAGGGCGGCGCAAAGAAGGAGGTGCTGCGTCGCCAAGGTGGCAT (CUL7)
XM_017011534.1:c.204_205insAAGGTCTTTTCCAGTTCTGACTTTGGGAAACGGGGAGGGCACTTCCGCAGGAGGGAGGACTAAAGGAAGAGGAAAGGGCGGCGCAAAGAAGGAGGTGCTGCGTCGCCAAGGTGGCAT (CUL7)
XM_017011535.1:c.204_205insAAGGTCTTTTCCAGTTCTGACTTTGGGAAACGGGGAGGGCACTTCCGCAGGAGGGAGGACTAAAGGAAGAGGAAAGGGCGGCGCAAAGAAGGAGGTGCTGCGTCGCCAAGGTGGCAT (CUL7)
XM_017011536.2:c.48_49insAAGGTCTTTTCCAGTTCTGACTTTGGGAAACGGGGAGGGCACTTCCGCAGGAGGGAGGACTAAAGGAAGAGGAAAGGGCGGCGCAAAGAAGGAGGTGCTGCGTCGCCAAGGTGGCAT (CUL7)
XM_017011537.2:c.48_49insAAGGTCTTTTCCAGTTCTGACTTTGGGAAACGGGGAGGGCACTTCCGCAGGAGGGAGGACTAAAGGAAGAGGAAAGGGCGGCGCAAAGAAGGAGGTGCTGCGTCGCCAAGGTGGCAT (CUL7)
XM_017011538.2:c.48_49insAAGGTCTTTTCCAGTTCTGACTTTGGGAAACGGGGAGGGCACTTCCGCAGGAGGGAGGACTAAAGGAAGAGGAAAGGGCGGCGCAAAGAAGGAGGTGCTGCGTCGCCAAGGTGGCAT (CUL7)
XM_017011539.2:c.48_49insAAGGTCTTTTCCAGTTCTGACTTTGGGAAACGGGGAGGGCACTTCCGCAGGAGGGAGGACTAAAGGAAGAGGAAAGGGCGGCGCAAAGAAGGAGGTGCTGCGTCGCCAAGGTGGCAT (CUL7)
XM_017011540.1:c.204_205insAAGGTCTTTTCCAGTTCTGACTTTGGGAAACGGGGAGGGCACTTCCGCAGGAGGGAGGACTAAAGGAAGAGGAAAGGGCGGCGCAAAGAAGGAGGTGCTGCGTCGCCAAGGTGGCAT (CUL7)
NM_001168370.2:c.48_49insAAGGTCTTTTCCAGTTCTGACTTTGGGAAACGGGGAGGGCACTTCCGCAGGAGGGAGGACTAAAGGAAGAGGAAAGGGCGGCGCAAAGAAGGAGGTGCTGCGTCGCCAAGGTGGCAT (CUL7)
NM_001374872.1:c.48_49insAAGGTCTTTTCCAGTTCTGACTTTGGGAAACGGGGAGGGCACTTCCGCAGGAGGGAGGACTAAAGGAAGAGGAAAGGGCGGCGCAAAGAAGGAGGTGCTGCGTCGCCAAGGTGGCAT (CUL7)
NM_001374873.1:c.48_49insAAGGTCTTTTCCAGTTCTGACTTTGGGAAACGGGGAGGGCACTTCCGCAGGAGGGAGGACTAAAGGAAGAGGAAAGGGCGGCGCAAAGAAGGAGGTGCTGCGTCGCCAAGGTGGCAT (CUL7)
NM_001374874.1:c.48_49insAAGGTCTTTTCCAGTTCTGACTTTGGGAAACGGGGAGGGCACTTCCGCAGGAGGGAGGACTAAAGGAAGAGGAAAGGGCGGCGCAAAGAAGGAGGTGCTGCGTCGCCAAGGTGGCAT (CUL7)
NM_014780.5:c.48_49insAAGGTCTTTTCCAGTTCTGACTTTGGGAAACGGGGAGGGCACTTCCGCAGGAGGGAGGACTAAAGGAAGAGGAAAGGGCGGCGCAAAGAAGGAGGTGCTGCGTCGCCAAGGTGGCAT (CUL7)