Canonical Allele Identifier: CA820875425

Gene: ESR1

Linked Data

• dbSNP Id: rs1178031774
• gnomAD v3: 6-152100927-A-AT
• gnomAD v4: 6-152100927-A-AT
• MyVariant Identifiers: chr6:g.152422062_152422063insT (hg19) ; chr6:g.152100927_152100928insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152100934dup , CM000668.2:g.152100934dup	GRCh38
NC_000006.11:g.152422069dup , CM000668.1:g.152422069dup	GRCh37
NC_000006.10:g.152463762dup	NCBI36
NG_008493.1:g.415439dup
NG_008493.2:g.449244dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000206249.8:c.*1968dup MANE Select	ENSP00000206249.3:n.*1968dup
ENST00000641399.1:n.1070+2014dup
ENST00000206249.7:c.*1968dup	ENSP00000206249.3:n.*1968dup
ENST00000427531.6:c.851-24332dup	ENSP00000394721.2:n.851-24332dup
ENST00000440973.5:c.*1968dup	ENSP00000405330.1:n.*1968dup
ENST00000443427.5:c.*1968dup	ENSP00000387500.1:n.*1968dup
NM_000125.3:c.*1968dup	NP_000116.2:n.*1968dup
NM_001122740.1:c.*1968dup	NP_001116212.1:n.*1968dup
NM_001122741.1:c.*1968dup	NP_001116213.1:n.*1968dup
NM_001122742.1:c.*1968dup	NP_001116214.1:n.*1968dup
NM_001291230.1:c.*1968dup	NP_001278159.1:n.*1968dup
NM_001291241.1:c.*1968dup	NP_001278170.1:n.*1968dup
XM_006715374.2:c.*2171dup	XP_006715437.1:n.*2171dup
XM_006715375.2:c.*1968dup	XP_006715438.1:n.*1968dup
XM_011535543.1:c.*1968dup	XP_011533845.1:n.*1968dup
XM_011535544.1:c.*1968dup	XP_011533846.1:n.*1968dup
XM_011535545.1:c.*1968dup	XP_011533847.1:n.*1968dup
XM_011535546.1:c.*1968dup	XP_011533848.1:n.*1968dup
XM_011535548.1:c.*1968dup	XP_011533850.1:n.*1968dup
XM_011535549.1:c.*1968dup	XP_011533851.1:n.*1968dup
NM_001328100.1:c.851-24332dup	NP_001315029.1:n.851-24332dup
XM_006715374.3:c.*2171dup	XP_006715437.1:n.*2171dup
NM_000125.4:c.*1968dup MANE Select	NP_000116.2:n.*1968dup
NM_001328100.2:c.851-24332dup	NP_001315029.1:n.851-24332dup
NM_001122740.2:c.*1968dup	NP_001116212.1:n.*1968dup
NM_001122741.2:c.*1968dup	NP_001116213.1:n.*1968dup
NM_001122742.2:c.*1968dup	NP_001116214.1:n.*1968dup
NM_001291230.2:c.*1968dup	NP_001278159.1:n.*1968dup
NM_001291241.2:c.*1968dup	NP_001278170.1:n.*1968dup
NM_001385568.1:c.*1968dup	NP_001372497.1:n.*1968dup
NM_001385569.1:c.*1968dup	NP_001372498.1:n.*1968dup
NM_001385570.1:c.*2171dup	NP_001372499.1:n.*2171dup
NM_001385571.1:c.*2171dup	NP_001372500.1:n.*2171dup
NM_001385572.1:c.*2171dup	NP_001372501.1:n.*2171dup