Canonical Allele Identifier: CA571347987

Gene: ESR1

Linked Data

• dbSNP Id: rs1236543186
• gnomAD v2: 6-152119117-CTT-C
• gnomAD v3: 6-151797982-CTT-C
• gnomAD v4: 6-151797982-CTT-C
• MyVariant Identifiers: chr6:g.152119118_152119119del (hg19) ; chr6:g.151797983_151797984del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.151797983_151797984del , CM000668.2:g.151797983_151797984del	GRCh38
NC_000006.11:g.152119118_152119119del , CM000668.1:g.152119118_152119119del	GRCh37
NC_000006.10:g.152160811_152160812del	NCBI36
NG_008493.1:g.112488_112489del
NG_008493.2:g.146293_146294del

Transcript Alleles

HGVS	Amino-acid change
ENST00000404742.5:c.-70-9860_-70-9859del	ENSP00000385373.1:n.-70-9860_-70-9859del
ENST00000440973.5:c.-70-9860_-70-9859del	ENSP00000405330.1:n.-70-9860_-70-9859del
ENST00000473497.5:n.205-9860_205-9859del
NM_001122742.1:c.-70-9860_-70-9859del	NP_001116214.1:n.-70-9860_-70-9859del
XM_006715374.2:c.-70-9860_-70-9859del	XP_006715437.1:n.-70-9860_-70-9859del
XM_011535543.1:c.-70-9860_-70-9859del	XP_011533845.1:n.-70-9860_-70-9859del
XM_011535545.1:c.-71+6271_-71+6272del	XP_011533847.1:n.-71+6271_-71+6272del
XM_011535547.1:c.-70-9860_-70-9859del	XP_011533849.1:n.-70-9860_-70-9859del
XM_006715374.3:c.-70-9860_-70-9859del	XP_006715437.1:n.-70-9860_-70-9859del
XM_011535543.2:c.-70-9860_-70-9859del	XP_011533845.1:n.-70-9860_-70-9859del
XM_011535545.2:c.-71+6271_-71+6272del	XP_011533847.1:n.-71+6271_-71+6272del
XM_011535547.2:c.-70-9860_-70-9859del	XP_011533849.1:n.-70-9860_-70-9859del
XM_017010376.1:c.-70-9860_-70-9859del	XP_016865865.1:n.-70-9860_-70-9859del
XM_017010377.1:c.-70-9860_-70-9859del	XP_016865866.1:n.-70-9860_-70-9859del
XM_017010378.1:c.-70-9860_-70-9859del	XP_016865867.1:n.-70-9860_-70-9859del
XM_017010379.1:c.-70-9860_-70-9859del	XP_016865868.1:n.-70-9860_-70-9859del
XM_017010380.1:c.-70-9860_-70-9859del	XP_016865869.1:n.-70-9860_-70-9859del
XR_001743223.2:n.301-9860_301-9859del
XR_002956266.1:n.301-9860_301-9859del
NM_001122742.2:c.-70-9860_-70-9859del	NP_001116214.1:n.-70-9860_-70-9859del
NM_001385568.1:c.-70-9860_-70-9859del	NP_001372497.1:n.-70-9860_-70-9859del
NM_001385570.1:c.-70-9860_-70-9859del	NP_001372499.1:n.-70-9860_-70-9859del