Canonical Allele Identifier: CA708659725

Gene: ESRRB

Linked Data

• dbSNP Id: rs1183848737
• gnomAD v4: 14-76462572-CCAA-C
• MyVariant Identifiers: chr14:g.76928916_76928918del (hg19) ; chr14:g.76462573_76462575del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.76462574_76462576del , CM000676.2:g.76462574_76462576del	GRCh38
NC_000014.8:g.76928917_76928919del , CM000676.1:g.76928917_76928919del	GRCh37
NC_000014.7:g.75998670_75998672del	NCBI36
NG_012278.1:g.96228_96230del
NG_012278.2:g.96228_96230del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380887.7:c.427_429del	ENSP00000370270.2:p.Asn143del
ENST00000505752.6:c.427_429del	ENSP00000423004.1:p.Asn143del
ENST00000512784.6:c.442_444del	ENSP00000424992.2:p.Asn148del
ENST00000644823.1:c.490_492del MANE Select	ENSP00000493776.1:p.Asn164del
ENST00000380887.6:c.427_429del	ENSP00000370270.2:p.Asn143del
ENST00000505752.5:c.427_429del	ENSP00000423004.1:p.Asn143del
ENST00000507951.5:n.535_537del
ENST00000509242.5:c.427_429del	ENSP00000422488.1:p.Asn143del
ENST00000509323.1:n.139_141del
ENST00000512784.5:c.442_444del	ENSP00000424992.1:p.Asn148del
ENST00000556177.1:c.427_429del	ENSP00000451658.1:p.Asn143del
NM_004452.3:c.427_429del	NP_004443.3:p.Asn143del
XM_005267404.2:c.490_492del	XP_005267461.1:p.Asn164del
XM_011536547.1:c.490_492del	XP_011534849.1:p.Asn164del
XM_011536548.1:c.427_429del	XP_011534850.1:p.Asn143del
XM_011536549.1:c.427_429del	XP_011534851.1:p.Asn143del
XM_011536550.1:c.427_429del	XP_011534852.1:p.Asn143del
XM_011536551.1:c.427_429del	XP_011534853.1:p.Asn143del
XM_011536552.1:c.427_429del	XP_011534854.1:p.Asn143del
XM_011536553.1:c.490_492del	XP_011534855.1:p.Asn164del
XM_011536554.1:c.490_492del	XP_011534856.1:p.Asn164del
XR_943401.1:n.737_739del
XM_011536547.2:c.490_492del	XP_011534849.1:p.Asn164del
XM_011536550.2:c.427_429del	XP_011534852.1:p.Asn143del
XM_011536553.2:c.490_492del	XP_011534855.1:p.Asn164del
XM_011536554.2:c.490_492del	XP_011534856.1:p.Asn164del
XM_017021085.1:c.427_429del	XP_016876574.1:p.Asn143del
XM_024449508.1:c.490_492del	XP_024305276.1:p.Asn164del
XM_024449509.1:c.427_429del	XP_024305277.1:p.Asn143del
XR_001750189.1:n.960_962del
XR_943401.2:n.960_962del
NM_001379180.1:c.490_492del MANE Select	NP_001366109.1:p.Asn164del
NM_004452.4:c.427_429del	NP_004443.3:p.Asn143del