Canonical Allele Identifier: CA2580093481
Community Standard Title: NM_002878.4(RAD51D):c.564_568delinsA (p.Val189ProfsTer4)
Gene: RAD51D HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.35106394_35106398delinsT , CM000679.2:g.35106394_35106398delinsT GRCh38
NC_000017.10:g.33433413_33433417delinsT , CM000679.1:g.33433413_33433417delinsT GRCh37
NC_000017.9:g.30457526_30457530delinsT NCBI36
NG_031858.1:g.18472_18476delinsA , LRG_516:g.18472_18476delinsA

Transcript Alleles

HGVS Amino-acid Change
NM_002878.4:c.564_568delinsA MANE Select NP_002869.3:p.Val189ProfsTer4
ENST00000345365.11:c.564_568delinsA MANE Select ENSP00000338790.6:p.Val189ProfsTer4
NM_001142571.1:c.624_628delinsA NP_001136043.1:p.Val209ProfsTer4
NM_001142571.2:c.624_628delinsA NP_001136043.1:p.Val209ProfsTer4
NM_002878.3:c.564_568delinsA , LRG_516t1:c.564_568delinsA NP_002869.3:p.Val189ProfsTer4
NM_133629.2:c.228_232delinsA NP_598332.1:p.Val77ProfsTer4
NM_133629.3:c.228_232delinsA NP_598332.1:p.Val77ProfsTer4
NR_037711.1:n.701_705delinsA
NR_037711.2:n.590_594delinsA
NR_037712.1:n.566_570delinsA
NR_037712.2:n.455_459delinsA
NR_037714.1:n.316_320delinsA
ENST00000335858.11:c.228_232delinsA ENSP00000338408.6:p.Val77ProfsTer4
ENST00000345365.10:c.564_568delinsA ENSP00000338790.6:p.Val189ProfsTer4
ENST00000394589.8:c.564_568delinsA ENSP00000378090.4:p.Val189ProfsTer4
ENST00000415064.6:n.714_718delinsA
ENST00000460118.6:c.33_37delinsA ENSP00000464356.2:p.Val12ProfsTer4
ENST00000585947.5:n.460_464delinsA
ENST00000585982.5:n.584_588delinsA
ENST00000586044.5:c.*295_*299delinsA ENSP00000465584.1:n.*295_*299delinsA
ENST00000586186.3:c.429_433delinsA ENSP00000468273.3:p.Val144ProfsTer4
ENST00000586210.5:c.*158_*162delinsA ENSP00000465612.1:n.*158_*162delinsA
ENST00000587405.5:c.207_211delinsA ENSP00000466478.1:p.Val70ProfsTer4
ENST00000587405.6:c.207_211delinsA ENSP00000466478.2:p.Val70ProfsTer4
ENST00000587977.5:c.*304_*308delinsA ENSP00000466587.1:n.*304_*308delinsA
ENST00000587982.5:n.357_361delinsA
ENST00000588372.5:c.207_211delinsA ENSP00000468764.1:p.Val70ProfsTer10
ENST00000588594.5:c.*160_*164delinsA ENSP00000465366.1:n.*160_*164delinsA
ENST00000590016.5:c.624_628delinsA ENSP00000466399.1:p.Val209ProfsTer4
ENST00000590016.6:c.624_628delinsA ENSP00000466399.1:p.Val209ProfsTer4
ENST00000590631.1:c.33_37delinsA ENSP00000465033.1:p.Val12ProfsTer4
ENST00000590631.2:n.520_524delinsA
ENST00000591723.5:c.33_37delinsA ENSP00000467986.1:p.Val12ProfsTer4
ENST00000592181.1:c.207_211delinsA ENSP00000464799.1:p.Val70ProfsTer4
ENST00000592430.5:n.533_537delinsA
ENST00000592577.5:c.570_574delinsA ENSP00000466839.1:p.Val191ProfsTer4
ENST00000592577.6:c.207_211delinsA ENSP00000466839.2:p.Val70ProfsTer4
ENST00000593039.5:c.87_91delinsA ENSP00000466834.1:p.Val30ProfsTer4