Canonical Allele Identifier: CA3813965

Gene: CUL7 KLC4

Linked Data

• dbSNP Id: rs371001601
• ExAC: 6:43015846 TCCTCTCCCCCAG / T
• gnomAD v2: 6-43015846-TCCTCTCCCCCAG-T
• gnomAD v3: 6-43048108-TCCTCTCCCCCAG-T
• gnomAD v4: 6-43048108-TCCTCTCCCCCAG-T
• MyVariant Identifiers: chr6:g.43015847_43015858del (hg19) ; chr6:g.43048109_43048120del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.43048118_43048129del , CM000668.2:g.43048118_43048129del	GRCh38
NC_000006.11:g.43015856_43015867del , CM000668.1:g.43015856_43015867del	GRCh37
NC_000006.10:g.43123834_43123845del	NCBI36
NG_016205.1:g.10826_10837del

Transcript Alleles

HGVS	Amino-acid change
ENST00000478630.2:n.13+28_13+39del (CUL7)
ENST00000674112.2:c.2169+28_2169+39del (CUL7)	ENSP00000501166.2:n.2169+28_2169+39del
ENST00000685042.1:c.2169+28_2169+39del (CUL7)	ENSP00000509871.1:n.2169+28_2169+39del
ENST00000686442.1:n.2452+28_2452+39del (CUL7)
ENST00000687225.1:c.2265+28_2265+39del (CUL7)	ENSP00000509364.1:n.2265+28_2265+39del
ENST00000688302.1:n.2452+28_2452+39del (CUL7)
ENST00000689256.1:n.2468+28_2468+39del (CUL7)
ENST00000690231.1:c.2169+28_2169+39del (CUL7)	ENSP00000508461.1:n.2169+28_2169+39del
ENST00000265348.9:c.2169+28_2169+39del (CUL7) MANE Select	ENSP00000265348.4:n.2169+28_2169+39del
ENST00000673725.1:c.118+28_118+39del (CUL7)
ENST00000673753.1:n.2503+28_2503+39del (CUL7)
ENST00000674100.1:c.2265+28_2265+39del (CUL7)	ENSP00000501292.1:n.2265+28_2265+39del
ENST00000674112.1:c.661+28_661+39del (CUL7)
ENST00000674134.1:c.2265+28_2265+39del (CUL7)	ENSP00000501068.1:n.2265+28_2265+39del
ENST00000265348.7:c.2169+28_2169+39del (CUL7)	ENSP00000265348.3:n.2169+28_2169+39del
ENST00000467906.5:c.-553+4610_-553+4621del (KLC4)	ENSP00000418759.1:n.-553+4610_-553+4621de...
ENST00000478630.1:n.13+28_13+39del (CUL7)
ENST00000535468.1:c.2421+28_2421+39del (CUL7)	ENSP00000438788.1:n.2421+28_2421+39del
NM_001168370.1:c.2421+28_2421+39del (CUL7)	NP_001161842.1:n.2421+28_2421+39del
NM_014780.4:c.2169+28_2169+39del (CUL7)	NP_055595.2:n.2169+28_2169+39del
XM_005249503.1:c.2325+28_2325+39del (CUL7)	XP_005249560.1:n.2325+28_2325+39del
XM_006715285.1:c.2265+28_2265+39del (CUL7)	XP_006715348.1:n.2265+28_2265+39del
XM_011515019.1:c.2421+28_2421+39del (CUL7)	XP_011513321.1:n.2421+28_2421+39del
XM_011515020.1:c.2325+28_2325+39del (CUL7)	XP_011513322.1:n.2325+28_2325+39del
XM_011515021.1:c.-14+28_-14+39del (CUL7)	XP_011513323.1:n.-14+28_-14+39del
XM_005249503.3:c.2325+28_2325+39del (CUL7)	XP_005249560.1:n.2325+28_2325+39del
XM_006715285.2:c.2265+28_2265+39del (CUL7)	XP_006715348.1:n.2265+28_2265+39del
XM_011515019.2:c.2421+28_2421+39del (CUL7)	XP_011513321.1:n.2421+28_2421+39del
XM_011515020.2:c.2325+28_2325+39del (CUL7)	XP_011513322.1:n.2325+28_2325+39del
XM_017011533.1:c.2448+28_2448+39del (CUL7)	XP_016867022.1:n.2448+28_2448+39del
XM_017011534.1:c.2448+28_2448+39del (CUL7)	XP_016867023.1:n.2448+28_2448+39del
XM_017011535.1:c.2352+28_2352+39del (CUL7)	XP_016867024.1:n.2352+28_2352+39del
XM_017011536.2:c.2292+28_2292+39del (CUL7)	XP_016867025.1:n.2292+28_2292+39del
XM_017011537.2:c.2265+28_2265+39del (CUL7)	XP_016867026.1:n.2265+28_2265+39del
XM_017011538.2:c.2196+28_2196+39del (CUL7)	XP_016867027.1:n.2196+28_2196+39del
XM_017011539.2:c.2169+28_2169+39del (CUL7)	XP_016867028.1:n.2169+28_2169+39del
XM_017011540.1:c.2448+28_2448+39del (CUL7)	XP_016867029.1:n.2448+28_2448+39del
NM_001168370.2:c.2265+28_2265+39del (CUL7)	NP_001161842.2:n.2265+28_2265+39del
NM_001374872.1:c.2265+28_2265+39del (CUL7)	NP_001361801.1:n.2265+28_2265+39del
NM_001374873.1:c.2169+28_2169+39del (CUL7)	NP_001361802.1:n.2169+28_2169+39del
NM_001374874.1:c.2169+28_2169+39del (CUL7)	NP_001361803.1:n.2169+28_2169+39del
NM_014780.5:c.2169+28_2169+39del (CUL7) MANE Select	NP_055595.2:n.2169+28_2169+39del