Canonical Allele Identifier: CA2645444010

Gene: RAD54L

Linked Data

• gnomAD v4: 1-46250103-TGG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.46250104_46250105del , CM000663.2:g.46250104_46250105del	GRCh38
NC_000001.10:g.46715776_46715777del , CM000663.1:g.46715776_46715777del	GRCh37
NC_000001.9:g.46488363_46488364del	NCBI36
NG_012144.1:g.7410_7411del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371975.9:c.195_196del MANE Select	ENSP00000361043.4:p.Asp66GlnfsTer5
ENST00000469835.6:c.195_196del	ENSP00000477172.2:p.Asp66GlnfsTer5
ENST00000655446.1:c.195_196del	ENSP00000499451.1:p.Asp66GlnfsTer5
ENST00000657122.1:c.*97_*98del	ENSP00000499519.1:n.*97_*98del
ENST00000669994.1:c.195_196del	ENSP00000499311.1:p.Asp66GlnfsTer5
ENST00000671528.1:c.195_196del	ENSP00000499652.1:p.Asp66GlnfsTer5
ENST00000371975.8:c.195_196del	ENSP00000361043.4:p.Asp66GlnfsTer5
ENST00000442598.5:c.195_196del	ENSP00000396113.1:p.Asp66GlnfsTer5
ENST00000463715.5:c.-378_-377del	ENSP00000480207.1:n.-378_-377del
ENST00000469835.5:c.195_196del	ENSP00000477172.1:p.Asp66GlnfsTer5
ENST00000487700.1:n.192_193del
ENST00000493032.5:c.-210_-209del	ENSP00000479995.1:n.-210_-209del
ENST00000493985.5:c.-346_-345del	ENSP00000479823.1:n.-346_-345del
NM_001142548.1:c.195_196del	NP_001136020.1:p.Asp66GlnfsTer5
NM_003579.3:c.195_196del	NP_003570.2:p.Asp66GlnfsTer5
XM_006710975.2:c.-346_-345del	XP_006711038.1:n.-346_-345del
XM_006710975.3:c.-346_-345del	XP_006711038.1:n.-346_-345del
NM_003579.4:c.195_196del MANE Select	NP_003570.2:p.Asp66GlnfsTer5
NM_001370766.1:c.-346_-345del	NP_001357695.1:n.-346_-345del
NM_001142548.2:c.195_196del	NP_001136020.1:p.Asp66GlnfsTer5