Canonical Allele Identifier: CA2573153475
Community Standard Title: NM_002878.4(RAD51D):c.969_970insGA (p.Gln324AspfsTer28)
Gene: RAD51D HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.35100971_35100972insCT , CM000679.2:g.35100971_35100972insCT GRCh38
NC_000017.10:g.33427990_33427991insCT , CM000679.1:g.33427990_33427991insCT GRCh37
NC_000017.9:g.30452103_30452104insCT NCBI36
NG_031858.1:g.23899_23900insGA , LRG_516:g.23899_23900insGA

Transcript Alleles

HGVS Amino-acid Change
NM_002878.4:c.969_970insGA MANE Select NP_002869.3:p.Gln324AspfsTer28
ENST00000345365.11:c.969_970insGA MANE Select ENSP00000338790.6:p.Gln324AspfsTer28
NM_001142571.1:c.1029_1030insGA NP_001136043.1:p.Gln344AspfsTer28
NM_001142571.2:c.1029_1030insGA NP_001136043.1:p.Gln344AspfsTer28
NM_002878.3:c.969_970insGA , LRG_516t1:c.969_970insGA NP_002869.3:p.Gln324AspfsTer28
NM_133629.2:c.633_634insGA NP_598332.1:p.Gln212AspfsTer28
NM_133629.3:c.633_634insGA NP_598332.1:p.Gln212AspfsTer28
NR_037711.1:n.1106_1107insGA
NR_037711.2:n.995_996insGA
NR_037712.1:n.971_972insGA
NR_037712.2:n.860_861insGA
NR_037714.1:n.655+230_655+231insGA
ENST00000335858.11:c.633_634insGA ENSP00000338408.6:p.Gln212AspfsTer28
ENST00000345365.10:c.969_970insGA ENSP00000338790.6:p.Gln324AspfsTer28
ENST00000394589.8:c.969_970insGA ENSP00000378090.4:p.Gln324AspfsTer28
ENST00000460118.6:c.438_439insGA ENSP00000464356.2:p.Gln147AspfsTer28
ENST00000586044.5:c.*700_*701insGA ENSP00000465584.1:n.*700_*701insGA
ENST00000586186.3:c.834_835insGA ENSP00000468273.3:p.Gln279AspfsTer28
ENST00000586210.5:c.*563_*564insGA ENSP00000465612.1:n.*563_*564insGA
ENST00000587405.6:c.612_613insGA ENSP00000466478.2:p.Gln205AspfsTer28
ENST00000587977.5:c.*709_*710insGA ENSP00000466587.1:n.*709_*710insGA
ENST00000588372.5:c.*452_*453insGA ENSP00000468764.1:n.*452_*453insGA
ENST00000588594.5:c.*565_*566insGA ENSP00000465366.1:n.*565_*566insGA
ENST00000590016.5:c.1029_1030insGA ENSP00000466399.1:p.Gln344AspfsTer28
ENST00000590016.6:c.1029_1030insGA ENSP00000466399.1:p.Gln344AspfsTer28
ENST00000591723.5:c.372+230_372+231insGA ENSP00000467986.1:n.372+230_372+231insGA
ENST00000592181.1:c.546+230_546+231insGA ENSP00000464799.1:n.546+230_546+231insGA
ENST00000592577.6:c.612_613insGA ENSP00000466839.2:p.Gln205AspfsTer28
ENST00000593039.5:c.426+230_426+231insGA ENSP00000466834.1:n.426+230_426+231insGA