Canonical Allele Identifier: CA571117873

Gene: ESR1

Linked Data

• gnomAD v2: 6-152422192-C-CTTT
• gnomAD v3: 6-152101057-C-CTTT
• gnomAD v4: 6-152101057-C-CTTT
• MyVariant Identifiers: chr6:g.152422192_152422193insTTT (hg19) ; chr6:g.152101057_152101058insTTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152101059_152101061dup , CM000668.2:g.152101059_152101061dup	GRCh38
NC_000006.11:g.152422194_152422196dup , CM000668.1:g.152422194_152422196dup	GRCh37
NC_000006.10:g.152463887_152463889dup	NCBI36
NG_008493.1:g.415564_415566dup
NG_008493.2:g.449369_449371dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000206249.8:c.*2093_*2095dup MANE Select	ENSP00000206249.3:n.*2093_*2095dup
ENST00000641399.1:n.1070+2139_1070+2141dup
ENST00000206249.7:c.*2093_*2095dup	ENSP00000206249.3:n.*2093_*2095dup
ENST00000427531.6:c.851-24207_851-24205dup	ENSP00000394721.2:n.851-24207_851-24205du...
ENST00000440973.5:c.*2093_*2095dup	ENSP00000405330.1:n.*2093_*2095dup
ENST00000443427.5:c.*2093_*2095dup	ENSP00000387500.1:n.*2093_*2095dup
NM_000125.3:c.*2093_*2095dup	NP_000116.2:n.*2093_*2095dup
NM_001122740.1:c.*2093_*2095dup	NP_001116212.1:n.*2093_*2095dup
NM_001122741.1:c.*2093_*2095dup	NP_001116213.1:n.*2093_*2095dup
NM_001122742.1:c.*2093_*2095dup	NP_001116214.1:n.*2093_*2095dup
NM_001291230.1:c.*2093_*2095dup	NP_001278159.1:n.*2093_*2095dup
NM_001291241.1:c.*2093_*2095dup	NP_001278170.1:n.*2093_*2095dup
XM_006715374.2:c.*2296_*2298dup	XP_006715437.1:n.*2296_*2298dup
XM_006715375.2:c.*2093_*2095dup	XP_006715438.1:n.*2093_*2095dup
XM_011535543.1:c.*2093_*2095dup	XP_011533845.1:n.*2093_*2095dup
XM_011535544.1:c.*2093_*2095dup	XP_011533846.1:n.*2093_*2095dup
XM_011535545.1:c.*2093_*2095dup	XP_011533847.1:n.*2093_*2095dup
XM_011535546.1:c.*2093_*2095dup	XP_011533848.1:n.*2093_*2095dup
XM_011535548.1:c.*2093_*2095dup	XP_011533850.1:n.*2093_*2095dup
XM_011535549.1:c.*2093_*2095dup	XP_011533851.1:n.*2093_*2095dup
NM_001328100.1:c.851-24207_851-24205dup	NP_001315029.1:n.851-24207_851-24205dup
XM_006715374.3:c.*2296_*2298dup	XP_006715437.1:n.*2296_*2298dup
NM_000125.4:c.*2093_*2095dup MANE Select	NP_000116.2:n.*2093_*2095dup
NM_001328100.2:c.851-24207_851-24205dup	NP_001315029.1:n.851-24207_851-24205dup
NM_001122740.2:c.*2093_*2095dup	NP_001116212.1:n.*2093_*2095dup
NM_001122741.2:c.*2093_*2095dup	NP_001116213.1:n.*2093_*2095dup
NM_001122742.2:c.*2093_*2095dup	NP_001116214.1:n.*2093_*2095dup
NM_001291230.2:c.*2093_*2095dup	NP_001278159.1:n.*2093_*2095dup
NM_001291241.2:c.*2093_*2095dup	NP_001278170.1:n.*2093_*2095dup
NM_001385568.1:c.*2093_*2095dup	NP_001372497.1:n.*2093_*2095dup
NM_001385569.1:c.*2093_*2095dup	NP_001372498.1:n.*2093_*2095dup
NM_001385570.1:c.*2296_*2298dup	NP_001372499.1:n.*2296_*2298dup
NM_001385571.1:c.*2296_*2298dup	NP_001372500.1:n.*2296_*2298dup
NM_001385572.1:c.*2296_*2298dup	NP_001372501.1:n.*2296_*2298dup