Canonical Allele Identifier: CA571118259

Gene: ESR1

Linked Data

• dbSNP Id: rs1432098579
• gnomAD v2: 6-152423824-TTG-T
• gnomAD v3: 6-152102689-TTG-T
• gnomAD v4: 6-152102689-TTG-T
• MyVariant Identifiers: chr6:g.152423825_152423826del (hg19) ; chr6:g.152102690_152102691del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152102691_152102692del , CM000668.2:g.152102691_152102692del	GRCh38
NC_000006.11:g.152423826_152423827del , CM000668.1:g.152423826_152423827del	GRCh37
NC_000006.10:g.152465519_152465520del	NCBI36
NG_008493.1:g.417196_417197del
NG_008493.2:g.451001_451002del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000206249.8:c.*3725_*3726del MANE Select	ENSP00000206249.3:n.*3725_*3726del
ENST00000641399.1:n.1070+3771_1070+3772del
ENST00000206249.7:c.*3725_*3726del	ENSP00000206249.3:n.*3725_*3726del
ENST00000427531.6:c.851-22575_851-22574del	ENSP00000394721.2:n.851-22575_851-22574del
ENST00000440973.5:c.*3725_*3726del	ENSP00000405330.1:n.*3725_*3726del
ENST00000443427.5:c.*3725_*3726del	ENSP00000387500.1:n.*3725_*3726del
NM_000125.3:c.*3725_*3726del	NP_000116.2:n.*3725_*3726del
NM_001122740.1:c.*3725_*3726del	NP_001116212.1:n.*3725_*3726del
NM_001122741.1:c.*3725_*3726del	NP_001116213.1:n.*3725_*3726del
NM_001122742.1:c.*3725_*3726del	NP_001116214.1:n.*3725_*3726del
NM_001291230.1:c.*3725_*3726del	NP_001278159.1:n.*3725_*3726del
NM_001291241.1:c.*3725_*3726del	NP_001278170.1:n.*3725_*3726del
XM_006715374.2:c.*3928_*3929del	XP_006715437.1:n.*3928_*3929del
XM_006715375.2:c.*3725_*3726del	XP_006715438.1:n.*3725_*3726del
XM_011535543.1:c.*3725_*3726del	XP_011533845.1:n.*3725_*3726del
XM_011535544.1:c.*3725_*3726del	XP_011533846.1:n.*3725_*3726del
XM_011535545.1:c.*3725_*3726del	XP_011533847.1:n.*3725_*3726del
XM_011535546.1:c.*3725_*3726del	XP_011533848.1:n.*3725_*3726del
XM_011535548.1:c.*3725_*3726del	XP_011533850.1:n.*3725_*3726del
XM_011535549.1:c.*3725_*3726del	XP_011533851.1:n.*3725_*3726del
NM_001328100.1:c.851-22575_851-22574del	NP_001315029.1:n.851-22575_851-22574del
XM_006715374.3:c.*3928_*3929del	XP_006715437.1:n.*3928_*3929del
NM_000125.4:c.*3725_*3726del MANE Select	NP_000116.2:n.*3725_*3726del
NM_001328100.2:c.851-22575_851-22574del	NP_001315029.1:n.851-22575_851-22574del
NM_001122740.2:c.*3725_*3726del	NP_001116212.1:n.*3725_*3726del
NM_001122741.2:c.*3725_*3726del	NP_001116213.1:n.*3725_*3726del
NM_001122742.2:c.*3725_*3726del	NP_001116214.1:n.*3725_*3726del
NM_001291230.2:c.*3725_*3726del	NP_001278159.1:n.*3725_*3726del
NM_001291241.2:c.*3725_*3726del	NP_001278170.1:n.*3725_*3726del
NM_001385568.1:c.*3725_*3726del	NP_001372497.1:n.*3725_*3726del
NM_001385569.1:c.*3725_*3726del	NP_001372498.1:n.*3725_*3726del
NM_001385570.1:c.*3928_*3929del	NP_001372499.1:n.*3928_*3929del
NM_001385571.1:c.*3928_*3929del	NP_001372500.1:n.*3928_*3929del
NM_001385572.1:c.*3928_*3929del	NP_001372501.1:n.*3928_*3929del