Canonical Allele Identifier: CA2625798185

Gene: ESRRB

Linked Data

• gnomAD v4: 14-76501280-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.76501282del , CM000676.2:g.76501282del	GRCh38
NC_000014.8:g.76967625del , CM000676.1:g.76967625del	GRCh37
NC_000014.7:g.76037378del	NCBI36
NG_012278.1:g.134936del
NG_012278.2:g.134936del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380887.7:c.*561del	ENSP00000370270.2:n.*561del
ENST00000644823.1:c.*2824del MANE Select	ENSP00000493776.1:n.*2824del
ENST00000380887.6:c.*561del	ENSP00000370270.2:n.*561del
ENST00000509242.5:c.*561del	ENSP00000422488.1:n.*561del
ENST00000611036.1:n.1637del
NM_004452.3:c.*561del	NP_004443.3:n.*561del
XM_011536547.1:c.*1057del	XP_011534849.1:n.*1057del
XM_011536548.1:c.*1057del	XP_011534850.1:n.*1057del
XM_011536549.1:c.*1057del	XP_011534851.1:n.*1057del
XM_011536550.1:c.*1057del	XP_011534852.1:n.*1057del
XM_011536551.1:c.*1057del	XP_011534853.1:n.*1057del
XM_011536552.1:c.*1057del	XP_011534854.1:n.*1057del
XM_011536553.1:c.*2320del	XP_011534855.1:n.*2320del
XM_011536554.1:c.*561del	XP_011534856.1:n.*561del
XM_011536555.1:c.*1057del	XP_011534857.1:n.*1057del
XR_943401.1:n.2585del
XR_944039.1:n.144+876del
XM_011536547.2:c.*1057del	XP_011534849.1:n.*1057del
XM_011536550.2:c.*1057del	XP_011534852.1:n.*1057del
XM_011536553.2:c.*2320del	XP_011534855.1:n.*2320del
XM_011536554.2:c.*561del	XP_011534856.1:n.*561del
XM_017021085.1:c.*1057del	XP_016876574.1:n.*1057del
XM_024449508.1:c.*1400del	XP_024305276.1:n.*1400del
XM_024449509.1:c.*561del	XP_024305277.1:n.*561del
XR_943401.2:n.2808del
NM_001379180.1:c.*2824del MANE Select	NP_001366109.1:n.*2824del
NM_004452.4:c.*561del	NP_004443.3:n.*561del