Canonical Allele Identifier: CA10576972

Gene: ESRRB

Linked Data

• ClinVar Variation Id: 228259
• ClinVar RCV Id: RCV000218592
• dbSNP Id: rs876657643
• MyVariant Identifiers: chr14:g.76958027_76958028del (hg19) ; chr14:g.76491684_76491685del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.76491684_76491685del , CM000676.2:g.76491684_76491685del	GRCh38
NC_000014.8:g.76958027_76958028del , CM000676.1:g.76958027_76958028del	GRCh37
NC_000014.7:g.76027780_76027781del	NCBI36
NG_012278.1:g.125338_125339del
NG_012278.2:g.125338_125339del

Transcript Alleles

HGVS	Amino-acid change
ENST00000380887.7:c.1025_1026del	ENSP00000370270.2:p.Val342AspfsTer?
ENST00000505752.6:c.1025_1026del	ENSP00000423004.1:p.Val342AspfsTer?
ENST00000512784.6:c.1040_1041del	ENSP00000424992.2:p.Val347AspfsTer?
ENST00000644823.1:c.1088_1089del MANE Select	ENSP00000493776.1:p.Val363AspfsTer?
ENST00000380887.6:c.1025_1026del	ENSP00000370270.2:p.Val342AspfsTer?
ENST00000505752.5:c.1025_1026del	ENSP00000423004.1:p.Val342AspfsTer?
ENST00000509242.5:c.1025_1026del	ENSP00000422488.1:p.Val342AspfsTer?
ENST00000512784.5:c.1040_1041del	ENSP00000424992.1:p.Val347AspfsTer?
ENST00000556177.1:c.1025_1026del	ENSP00000451658.1:p.Val342AspfsTer?
NM_004452.3:c.1025_1026del	NP_004443.3:p.Val342AspfsTer?
XM_005267404.2:c.1088_1089del	XP_005267461.1:p.Val363AspfsTer?
XM_011536547.1:c.1088_1089del	XP_011534849.1:p.Val363AspfsTer?
XM_011536548.1:c.1025_1026del	XP_011534850.1:p.Val342AspfsTer?
XM_011536549.1:c.1025_1026del	XP_011534851.1:p.Val342AspfsTer?
XM_011536550.1:c.1025_1026del	XP_011534852.1:p.Val342AspfsTer?
XM_011536551.1:c.1025_1026del	XP_011534853.1:p.Val342AspfsTer?
XM_011536552.1:c.1025_1026del	XP_011534854.1:p.Val342AspfsTer?
XM_011536553.1:c.1088_1089del	XP_011534855.1:p.Val363AspfsTer?
XM_011536554.1:c.1088_1089del	XP_011534856.1:p.Val363AspfsTer?
XM_011536555.1:c.347_348del	XP_011534857.1:p.Val116AspfsTer?
XR_943401.1:n.1335_1336del
XR_944039.1:n.144+10474_144+10475del
XM_011536547.2:c.1088_1089del	XP_011534849.1:p.Val363AspfsTer?
XM_011536550.2:c.1025_1026del	XP_011534852.1:p.Val342AspfsTer?
XM_011536553.2:c.1088_1089del	XP_011534855.1:p.Val363AspfsTer?
XM_011536554.2:c.1088_1089del	XP_011534856.1:p.Val363AspfsTer?
XM_017021085.1:c.1025_1026del	XP_016876574.1:p.Val342AspfsTer?
XM_024449508.1:c.1088_1089del	XP_024305276.1:p.Val363AspfsTer?
XM_024449509.1:c.1025_1026del	XP_024305277.1:p.Val342AspfsTer?
XR_001750189.1:n.1558_1559del
XR_943401.2:n.1558_1559del
NM_001379180.1:c.1088_1089del MANE Select	NP_001366109.1:p.Val363AspfsTer?
NM_004452.4:c.1025_1026del	NP_004443.3:p.Val342AspfsTer?