Canonical Allele Identifier: CA708645042

Gene: ESRRB

Linked Data

• dbSNP Id: rs1226561262
• gnomAD v3: 14-76501309-TTTG-T
• gnomAD v4: 14-76501309-TTTG-T
• MyVariant Identifiers: chr14:g.76967653_76967655del (hg19) ; chr14:g.76501310_76501312del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.76501311_76501313del , CM000676.2:g.76501311_76501313del	GRCh38
NC_000014.8:g.76967654_76967656del , CM000676.1:g.76967654_76967656del	GRCh37
NC_000014.7:g.76037407_76037409del	NCBI36
NG_012278.1:g.134965_134967del
NG_012278.2:g.134965_134967del

Transcript Alleles

HGVS	Amino-acid change
ENST00000380887.7:c.*590_*592del	ENSP00000370270.2:n.*590_*592del
ENST00000644823.1:c.*2853_*2855del MANE Select	ENSP00000493776.1:n.*2853_*2855del
ENST00000380887.6:c.*590_*592del	ENSP00000370270.2:n.*590_*592del
ENST00000509242.5:c.*590_*592del	ENSP00000422488.1:n.*590_*592del
ENST00000611036.1:n.1666_1668del
NM_004452.3:c.*590_*592del	NP_004443.3:n.*590_*592del
XM_011536547.1:c.*1086_*1088del	XP_011534849.1:n.*1086_*1088del
XM_011536548.1:c.*1086_*1088del	XP_011534850.1:n.*1086_*1088del
XM_011536549.1:c.*1086_*1088del	XP_011534851.1:n.*1086_*1088del
XM_011536550.1:c.*1086_*1088del	XP_011534852.1:n.*1086_*1088del
XM_011536551.1:c.*1086_*1088del	XP_011534853.1:n.*1086_*1088del
XM_011536552.1:c.*1086_*1088del	XP_011534854.1:n.*1086_*1088del
XM_011536553.1:c.*2349_*2351del	XP_011534855.1:n.*2349_*2351del
XM_011536554.1:c.*590_*592del	XP_011534856.1:n.*590_*592del
XM_011536555.1:c.*1086_*1088del	XP_011534857.1:n.*1086_*1088del
XR_943401.1:n.2614_2616del
XR_944039.1:n.144+845_144+847del
XM_011536547.2:c.*1086_*1088del	XP_011534849.1:n.*1086_*1088del
XM_011536550.2:c.*1086_*1088del	XP_011534852.1:n.*1086_*1088del
XM_011536553.2:c.*2349_*2351del	XP_011534855.1:n.*2349_*2351del
XM_011536554.2:c.*590_*592del	XP_011534856.1:n.*590_*592del
XM_017021085.1:c.*1086_*1088del	XP_016876574.1:n.*1086_*1088del
XM_024449508.1:c.*1429_*1431del	XP_024305276.1:n.*1429_*1431del
XM_024449509.1:c.*590_*592del	XP_024305277.1:n.*590_*592del
XR_943401.2:n.2837_2839del
NM_001379180.1:c.*2853_*2855del MANE Select	NP_001366109.1:n.*2853_*2855del
NM_004452.4:c.*590_*592del	NP_004443.3:n.*590_*592del