Canonical Allele Identifier: CA2625794781

Gene: ESRRB

Linked Data

• gnomAD v4: 14-76491488-CAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.76491491_76491492del , CM000676.2:g.76491491_76491492del	GRCh38
NC_000014.8:g.76957834_76957835del , CM000676.1:g.76957834_76957835del	GRCh37
NC_000014.7:g.76027587_76027588del	NCBI36
NG_012278.1:g.125145_125146del
NG_012278.2:g.125145_125146del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380887.7:c.832_833del	ENSP00000370270.2:p.Ser278CysfsTer18
ENST00000505752.6:c.832_833del	ENSP00000423004.1:p.Ser278CysfsTer18
ENST00000512784.6:c.847_848del	ENSP00000424992.2:p.Ser283CysfsTer18
ENST00000644823.1:c.895_896del MANE Select	ENSP00000493776.1:p.Ser299CysfsTer18
ENST00000380887.6:c.832_833del	ENSP00000370270.2:p.Ser278CysfsTer18
ENST00000505752.5:c.832_833del	ENSP00000423004.1:p.Ser278CysfsTer18
ENST00000509242.5:c.832_833del	ENSP00000422488.1:p.Ser278CysfsTer18
ENST00000512784.5:c.847_848del	ENSP00000424992.1:p.Ser283CysfsTer18
ENST00000556177.1:c.832_833del	ENSP00000451658.1:p.Ser278CysfsTer18
NM_004452.3:c.832_833del	NP_004443.3:p.Ser278CysfsTer18
XM_005267404.2:c.895_896del	XP_005267461.1:p.Ser299CysfsTer18
XM_011536547.1:c.895_896del	XP_011534849.1:p.Ser299CysfsTer18
XM_011536548.1:c.832_833del	XP_011534850.1:p.Ser278CysfsTer18
XM_011536549.1:c.832_833del	XP_011534851.1:p.Ser278CysfsTer18
XM_011536550.1:c.832_833del	XP_011534852.1:p.Ser278CysfsTer18
XM_011536551.1:c.832_833del	XP_011534853.1:p.Ser278CysfsTer18
XM_011536552.1:c.832_833del	XP_011534854.1:p.Ser278CysfsTer18
XM_011536553.1:c.895_896del	XP_011534855.1:p.Ser299CysfsTer18
XM_011536554.1:c.895_896del	XP_011534856.1:p.Ser299CysfsTer18
XM_011536555.1:c.154_155del	XP_011534857.1:p.Ser52CysfsTer18
XR_943401.1:n.1142_1143del
XR_944039.1:n.144+10667_144+10668del
XM_011536547.2:c.895_896del	XP_011534849.1:p.Ser299CysfsTer18
XM_011536550.2:c.832_833del	XP_011534852.1:p.Ser278CysfsTer18
XM_011536553.2:c.895_896del	XP_011534855.1:p.Ser299CysfsTer18
XM_011536554.2:c.895_896del	XP_011534856.1:p.Ser299CysfsTer18
XM_017021085.1:c.832_833del	XP_016876574.1:p.Ser278CysfsTer18
XM_024449508.1:c.895_896del	XP_024305276.1:p.Ser299CysfsTer18
XM_024449509.1:c.832_833del	XP_024305277.1:p.Ser278CysfsTer18
XR_001750189.1:n.1365_1366del
XR_943401.2:n.1365_1366del
NM_001379180.1:c.895_896del MANE Select	NP_001366109.1:p.Ser299CysfsTer18
NM_004452.4:c.832_833del	NP_004443.3:p.Ser278CysfsTer18