Canonical Allele Identifier: CA824872029

Gene: CUL7 KLC4

Linked Data

• dbSNP Id: rs1187632617
• gnomAD v3: 6-43047909-CAG-C
• gnomAD v4: 6-43047909-CAG-C
• MyVariant Identifiers: chr6:g.43015648_43015649del (hg19) ; chr6:g.43047910_43047911del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.43047913_43047914del , CM000668.2:g.43047913_43047914del	GRCh38
NC_000006.11:g.43015651_43015652del , CM000668.1:g.43015651_43015652del	GRCh37
NC_000006.10:g.43123629_43123630del	NCBI36
NG_016205.1:g.11035_11036del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478630.2:n.56+36_56+37del (CUL7)
ENST00000674112.2:c.2169+237_2169+238del (CUL7)	ENSP00000501166.2:n.2169+237_2169+238del
ENST00000685042.1:c.2169+237_2169+238del (CUL7)	ENSP00000509871.1:n.2169+237_2169+238del
ENST00000686442.1:n.2452+237_2452+238del (CUL7)
ENST00000687225.1:c.*4+36_*4+37del (CUL7)	ENSP00000509364.1:n.*4+36_*4+37del
ENST00000688302.1:n.2452+237_2452+238del (CUL7)
ENST00000689256.1:n.2468+237_2468+238del (CUL7)
ENST00000690231.1:c.2169+237_2169+238del (CUL7)	ENSP00000508461.1:n.2169+237_2169+238del
ENST00000265348.9:c.2169+237_2169+238del (CUL7) MANE Select	ENSP00000265348.4:n.2169+237_2169+238del
ENST00000673725.1:c.118+237_118+238del (CUL7)
ENST00000673753.1:n.2546+36_2546+37del (CUL7)
ENST00000674100.1:c.2265+237_2265+238del (CUL7)	ENSP00000501292.1:n.2265+237_2265+238del
ENST00000674112.1:c.661+237_661+238del (CUL7)
ENST00000674134.1:c.2265+237_2265+238del (CUL7)	ENSP00000501068.1:n.2265+237_2265+238del
ENST00000265348.7:c.2169+237_2169+238del (CUL7)	ENSP00000265348.3:n.2169+237_2169+238del
ENST00000467906.5:c.-553+4405_-553+4406del (KLC4)	ENSP00000418759.1:n.-553+4405_-553+4406del
ENST00000478630.1:n.56+36_56+37del (CUL7)
ENST00000535468.1:c.2421+237_2421+238del (CUL7)	ENSP00000438788.1:n.2421+237_2421+238del
NM_001168370.1:c.2421+237_2421+238del (CUL7)	NP_001161842.1:n.2421+237_2421+238del
NM_014780.4:c.2169+237_2169+238del (CUL7)	NP_055595.2:n.2169+237_2169+238del
XM_005249503.1:c.2325+237_2325+238del (CUL7)	XP_005249560.1:n.2325+237_2325+238del
XM_006715285.1:c.2265+237_2265+238del (CUL7)	XP_006715348.1:n.2265+237_2265+238del
XM_011515019.1:c.2421+237_2421+238del (CUL7)	XP_011513321.1:n.2421+237_2421+238del
XM_011515020.1:c.2325+237_2325+238del (CUL7)	XP_011513322.1:n.2325+237_2325+238del
XM_011515021.1:c.30+36_30+37del (CUL7)	XP_011513323.1:n.30+36_30+37del
XM_005249503.3:c.2325+237_2325+238del (CUL7)	XP_005249560.1:n.2325+237_2325+238del
XM_006715285.2:c.2265+237_2265+238del (CUL7)	XP_006715348.1:n.2265+237_2265+238del
XM_011515019.2:c.2421+237_2421+238del (CUL7)	XP_011513321.1:n.2421+237_2421+238del
XM_011515020.2:c.2325+237_2325+238del (CUL7)	XP_011513322.1:n.2325+237_2325+238del
XM_017011533.1:c.2448+237_2448+238del (CUL7)	XP_016867022.1:n.2448+237_2448+238del
XM_017011534.1:c.2448+237_2448+238del (CUL7)	XP_016867023.1:n.2448+237_2448+238del
XM_017011535.1:c.2352+237_2352+238del (CUL7)	XP_016867024.1:n.2352+237_2352+238del
XM_017011536.2:c.2292+237_2292+238del (CUL7)	XP_016867025.1:n.2292+237_2292+238del
XM_017011537.2:c.2265+237_2265+238del (CUL7)	XP_016867026.1:n.2265+237_2265+238del
XM_017011538.2:c.2196+237_2196+238del (CUL7)	XP_016867027.1:n.2196+237_2196+238del
XM_017011539.2:c.2169+237_2169+238del (CUL7)	XP_016867028.1:n.2169+237_2169+238del
XM_017011540.1:c.2448+237_2448+238del (CUL7)	XP_016867029.1:n.2448+237_2448+238del
NM_001168370.2:c.2265+237_2265+238del (CUL7)	NP_001161842.2:n.2265+237_2265+238del
NM_001374872.1:c.2265+237_2265+238del (CUL7)	NP_001361801.1:n.2265+237_2265+238del
NM_001374873.1:c.2169+237_2169+238del (CUL7)	NP_001361802.1:n.2169+237_2169+238del
NM_001374874.1:c.2169+237_2169+238del (CUL7)	NP_001361803.1:n.2169+237_2169+238del
NM_014780.5:c.2169+237_2169+238del (CUL7) MANE Select	NP_055595.2:n.2169+237_2169+238del