Canonical Allele Identifier: CA820856485

Gene: ESR1

Linked Data

• dbSNP Id: rs1457586037
• gnomAD v3: 6-151797984-TA-T
• gnomAD v4: 6-151797984-TA-T
• MyVariant Identifiers: chr6:g.152119120del (hg19) ; chr6:g.151797985del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.151797987del , CM000668.2:g.151797987del	GRCh38
NC_000006.11:g.152119122del , CM000668.1:g.152119122del	GRCh37
NC_000006.10:g.152160815del	NCBI36
NG_008493.1:g.112492del
NG_008493.2:g.146297del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000404742.5:c.-70-9856del	ENSP00000385373.1:n.-70-9856del
ENST00000440973.5:c.-70-9856del	ENSP00000405330.1:n.-70-9856del
ENST00000473497.5:n.205-9856del
NM_001122742.1:c.-70-9856del	NP_001116214.1:n.-70-9856del
XM_006715374.2:c.-70-9856del	XP_006715437.1:n.-70-9856del
XM_011535543.1:c.-70-9856del	XP_011533845.1:n.-70-9856del
XM_011535545.1:c.-71+6275del	XP_011533847.1:n.-71+6275del
XM_011535547.1:c.-70-9856del	XP_011533849.1:n.-70-9856del
XM_006715374.3:c.-70-9856del	XP_006715437.1:n.-70-9856del
XM_011535543.2:c.-70-9856del	XP_011533845.1:n.-70-9856del
XM_011535545.2:c.-71+6275del	XP_011533847.1:n.-71+6275del
XM_011535547.2:c.-70-9856del	XP_011533849.1:n.-70-9856del
XM_017010376.1:c.-70-9856del	XP_016865865.1:n.-70-9856del
XM_017010377.1:c.-70-9856del	XP_016865866.1:n.-70-9856del
XM_017010378.1:c.-70-9856del	XP_016865867.1:n.-70-9856del
XM_017010379.1:c.-70-9856del	XP_016865868.1:n.-70-9856del
XM_017010380.1:c.-70-9856del	XP_016865869.1:n.-70-9856del
XR_001743223.2:n.301-9856del
XR_002956266.1:n.301-9856del
NM_001122742.2:c.-70-9856del	NP_001116214.1:n.-70-9856del
NM_001385568.1:c.-70-9856del	NP_001372497.1:n.-70-9856del
NM_001385570.1:c.-70-9856del	NP_001372499.1:n.-70-9856del