Canonical Allele Identifier: CA522621129

Gene: RAD54L

Linked Data

• dbSNP Id: rs1346507931
• gnomAD v2: 1-46715758-CA-C
• gnomAD v3: 1-46250086-CA-C
• gnomAD v4: 1-46250086-CA-C
• MyVariant Identifiers: chr1:g.46715759del (hg19) ; chr1:g.46250087del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.46250088del , CM000663.2:g.46250088del	GRCh38
NC_000001.10:g.46715760del , CM000663.1:g.46715760del	GRCh37
NC_000001.9:g.46488347del	NCBI36
NG_012144.1:g.7394del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371975.9:c.179del MANE Select	ENSP00000361043.4:p.Asn60IlefsTer?
ENST00000469835.6:c.179del	ENSP00000477172.2:p.Asn60IlefsTer?
ENST00000655446.1:c.179del	ENSP00000499451.1:p.Asn60IlefsTer18
ENST00000657122.1:c.*81del	ENSP00000499519.1:n.*81del
ENST00000669994.1:c.179del	ENSP00000499311.1:p.Asn60IlefsTer?
ENST00000671528.1:c.179del	ENSP00000499652.1:p.Asn60IlefsTer?
ENST00000371975.8:c.179del	ENSP00000361043.4:p.Asn60IlefsTer?
ENST00000442598.5:c.179del	ENSP00000396113.1:p.Asn60IlefsTer?
ENST00000463715.5:c.-394del	ENSP00000480207.1:n.-394del
ENST00000469835.5:c.179del	ENSP00000477172.1:p.Asn60IlefsTer?
ENST00000487700.1:n.176del
ENST00000493032.5:c.-226del	ENSP00000479995.1:n.-226del
ENST00000493985.5:c.-362del	ENSP00000479823.1:n.-362del
NM_001142548.1:c.179del	NP_001136020.1:p.Asn60IlefsTer?
NM_003579.3:c.179del	NP_003570.2:p.Asn60IlefsTer?
XM_006710975.2:c.-362del	XP_006711038.1:n.-362del
XM_006710975.3:c.-362del	XP_006711038.1:n.-362del
NM_003579.4:c.179del MANE Select	NP_003570.2:p.Asn60IlefsTer?
NM_001370766.1:c.-362del	NP_001357695.1:n.-362del
NM_001142548.2:c.179del	NP_001136020.1:p.Asn60IlefsTer?