Canonical Allele Identifier: CA2645444007

Gene: RAD54L

Linked Data

• gnomAD v4: 1-46250092-A-ACCAC

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.46250094_46250097dup , CM000663.2:g.46250094_46250097dup	GRCh38
NC_000001.10:g.46715766_46715769dup , CM000663.1:g.46715766_46715769dup	GRCh37
NC_000001.9:g.46488353_46488356dup	NCBI36
NG_012144.1:g.7400_7403dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371975.9:c.185_188dup MANE Select	ENSP00000361043.4:p.Cys64ThrfsTer9
ENST00000469835.6:c.185_188dup	ENSP00000477172.2:p.Cys64ThrfsTer9
ENST00000655446.1:c.185_188dup	ENSP00000499451.1:p.Cys64ThrfsTer9
ENST00000657122.1:c.*87_*90dup	ENSP00000499519.1:n.*87_*90dup
ENST00000669994.1:c.185_188dup	ENSP00000499311.1:p.Cys64ThrfsTer9
ENST00000671528.1:c.185_188dup	ENSP00000499652.1:p.Cys64ThrfsTer9
ENST00000371975.8:c.185_188dup	ENSP00000361043.4:p.Cys64ThrfsTer9
ENST00000442598.5:c.185_188dup	ENSP00000396113.1:p.Cys64ThrfsTer9
ENST00000463715.5:c.-388_-385dup	ENSP00000480207.1:n.-388_-385dup
ENST00000469835.5:c.185_188dup	ENSP00000477172.1:p.Cys64ThrfsTer9
ENST00000487700.1:n.182_185dup
ENST00000493032.5:c.-220_-217dup	ENSP00000479995.1:n.-220_-217dup
ENST00000493985.5:c.-356_-353dup	ENSP00000479823.1:n.-356_-353dup
NM_001142548.1:c.185_188dup	NP_001136020.1:p.Cys64ThrfsTer9
NM_003579.3:c.185_188dup	NP_003570.2:p.Cys64ThrfsTer9
XM_006710975.2:c.-356_-353dup	XP_006711038.1:n.-356_-353dup
XM_006710975.3:c.-356_-353dup	XP_006711038.1:n.-356_-353dup
NM_003579.4:c.185_188dup MANE Select	NP_003570.2:p.Cys64ThrfsTer9
NM_001370766.1:c.-356_-353dup	NP_001357695.1:n.-356_-353dup
NM_001142548.2:c.185_188dup	NP_001136020.1:p.Cys64ThrfsTer9