Canonical Allele Identifier: CA736275559

Gene: RAD54L

Linked Data

• dbSNP Id: rs1298677253
• gnomAD v3: 1-46250462-TAATC-T
• gnomAD v4: 1-46250462-TAATC-T
• MyVariant Identifiers: chr1:g.46716135_46716138del (hg19) ; chr1:g.46250463_46250466del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.46250464_46250467del , CM000663.2:g.46250464_46250467del	GRCh38
NC_000001.10:g.46716136_46716139del , CM000663.1:g.46716136_46716139del	GRCh37
NC_000001.9:g.46488723_46488726del	NCBI36
NG_012144.1:g.7770_7773del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371975.9:c.210+345_210+348del MANE Select	ENSP00000361043.4:n.210+345_210+348del
ENST00000469835.6:c.210+345_210+348del	ENSP00000477172.2:n.210+345_210+348del
ENST00000655446.1:c.210+345_210+348del	ENSP00000499451.1:n.210+345_210+348del
ENST00000657122.1:c.*112+345_*112+348del	ENSP00000499519.1:n.*112+345_*112+348del
ENST00000669994.1:c.210+345_210+348del	ENSP00000499311.1:n.210+345_210+348del
ENST00000671528.1:c.210+345_210+348del	ENSP00000499652.1:n.210+345_210+348del
ENST00000371975.8:c.210+345_210+348del	ENSP00000361043.4:n.210+345_210+348del
ENST00000442598.5:c.210+345_210+348del	ENSP00000396113.1:n.210+345_210+348del
ENST00000463715.5:c.-363+345_-363+348del	ENSP00000480207.1:n.-363+345_-363+348del
ENST00000469835.5:c.210+345_210+348del	ENSP00000477172.1:n.210+345_210+348del
ENST00000487700.1:n.207+345_207+348del
ENST00000493032.5:c.-195+345_-195+348del	ENSP00000479995.1:n.-195+345_-195+348del
ENST00000493985.5:c.-331+345_-331+348del	ENSP00000479823.1:n.-331+345_-331+348del
NM_001142548.1:c.210+345_210+348del	NP_001136020.1:n.210+345_210+348del
NM_003579.3:c.210+345_210+348del	NP_003570.2:n.210+345_210+348del
XM_006710975.2:c.-331+345_-331+348del	XP_006711038.1:n.-331+345_-331+348del
XM_006710975.3:c.-331+345_-331+348del	XP_006711038.1:n.-331+345_-331+348del
NM_003579.4:c.210+345_210+348del MANE Select	NP_003570.2:n.210+345_210+348del
NM_001370766.1:c.-331+345_-331+348del	NP_001357695.1:n.-331+345_-331+348del
NM_001142548.2:c.210+345_210+348del	NP_001136020.1:n.210+345_210+348del