Canonical Allele Identifier: CA2680805441

Gene: ESR1

Linked Data

• gnomAD v4: 6-151944393-C-CGGAA

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.151944393_151944394insGGAA , CM000668.2:g.151944393_151944394insGGAA	GRCh38
NC_000006.11:g.152265528_152265529insGGAA , CM000668.1:g.152265528_152265529insGGAA	GRCh37
NC_000006.10:g.152307221_152307222insGGAA	NCBI36
NG_008493.1:g.258898_258899insGGAA
NG_008493.2:g.292703_292704insGGAA

Transcript Alleles

HGVS	Amino-acid change
ENST00000206249.8:c.981_982insGGAA MANE Select	ENSP00000206249.3:p.Tyr328GlyfsTer6
ENST00000638569.1:c.42+144_42+145insGGAA	ENSP00000491412.1:n.42+144_42+145insGGAA
ENST00000641399.1:n.309_310insGGAA
ENST00000206249.7:c.981_982insGGAA	ENSP00000206249.3:p.Tyr328GlyfsTer6
ENST00000338799.9:c.981_982insGGAA	ENSP00000342630.5:p.Tyr328GlyfsTer6
ENST00000406599.5:c.453-116598_453-116597insGGAA	ENSP00000384064.1:n.453-116598_453-116597...
ENST00000415488.1:c.115+63622_115+63623insGGAA	ENSP00000401995.1:n.115+63622_115+63623in...
ENST00000427531.6:c.462_463insGGAA	ENSP00000394721.2:p.Tyr155GlyfsTer6
ENST00000440973.5:c.981_982insGGAA	ENSP00000405330.1:p.Tyr328GlyfsTer6
ENST00000443427.5:c.981_982insGGAA	ENSP00000387500.1:p.Tyr328GlyfsTer6
ENST00000456483.3:c.*110+63622_*110+63623insGGAA	ENSP00000415934.3:n.*110+63622_*110+63623...
ENST00000482101.1:n.222_223insGGAA
NM_000125.3:c.981_982insGGAA	NP_000116.2:p.Tyr328GlyfsTer6
NM_001122740.1:c.981_982insGGAA	NP_001116212.1:p.Tyr328GlyfsTer6
NM_001122741.1:c.981_982insGGAA	NP_001116213.1:p.Tyr328GlyfsTer6
NM_001122742.1:c.981_982insGGAA	NP_001116214.1:p.Tyr328GlyfsTer6
NM_001291230.1:c.987_988insGGAA	NP_001278159.1:p.Tyr330GlyfsTer6
NM_001291241.1:c.978_979insGGAA	NP_001278170.1:p.Tyr327GlyfsTer6
XM_006715374.2:c.981_982insGGAA	XP_006715437.1:p.Tyr328GlyfsTer6
XM_006715375.2:c.462_463insGGAA	XP_006715438.1:p.Tyr155GlyfsTer6
XM_011535543.1:c.981_982insGGAA	XP_011533845.1:p.Tyr328GlyfsTer6
XM_011535544.1:c.981_982insGGAA	XP_011533846.1:p.Tyr328GlyfsTer6
XM_011535545.1:c.981_982insGGAA	XP_011533847.1:p.Tyr328GlyfsTer6
XM_011535546.1:c.981_982insGGAA	XP_011533848.1:p.Tyr328GlyfsTer6
XM_011535547.1:c.981_982insGGAA	XP_011533849.1:p.Tyr328GlyfsTer6
XM_011535548.1:c.462_463insGGAA	XP_011533850.1:p.Tyr155GlyfsTer6
XM_011535549.1:c.252_253insGGAA	XP_011533851.1:p.Tyr85GlyfsTer6
NM_001328100.1:c.462_463insGGAA	NP_001315029.1:p.Tyr155GlyfsTer6
XM_006715374.3:c.981_982insGGAA	XP_006715437.1:p.Tyr328GlyfsTer6
XM_006715375.3:c.462_463insGGAA	XP_006715438.1:p.Tyr155GlyfsTer6
XM_011535543.2:c.981_982insGGAA	XP_011533845.1:p.Tyr328GlyfsTer6
XM_011535544.2:c.981_982insGGAA	XP_011533846.1:p.Tyr328GlyfsTer6
XM_011535545.2:c.981_982insGGAA	XP_011533847.1:p.Tyr328GlyfsTer6
XM_011535547.2:c.981_982insGGAA	XP_011533849.1:p.Tyr328GlyfsTer6
XM_011535549.2:c.252_253insGGAA	XP_011533851.1:p.Tyr85GlyfsTer6
XM_017010376.1:c.981_982insGGAA	XP_016865865.1:p.Tyr328GlyfsTer6
XM_017010377.1:c.981_982insGGAA	XP_016865866.1:p.Tyr328GlyfsTer6
XM_017010378.1:c.981_982insGGAA	XP_016865867.1:p.Tyr328GlyfsTer6
XM_017010379.1:c.981_982insGGAA	XP_016865868.1:p.Tyr328GlyfsTer6
XM_017010380.1:c.981_982insGGAA	XP_016865869.1:p.Tyr328GlyfsTer6
XM_017010381.1:c.981_982insGGAA	XP_016865870.1:p.Tyr328GlyfsTer6
XM_017010382.2:c.324_325insGGAA	XP_016865871.1:p.Tyr109GlyfsTer6
XM_017010383.1:c.192_193insGGAA	XP_016865872.1:p.Tyr65GlyfsTer6
XR_001743223.2:n.1351_1352insGGAA
XR_002956266.1:n.1351_1352insGGAA
NM_000125.4:c.981_982insGGAA MANE Select	NP_000116.2:p.Tyr328GlyfsTer6
NM_001328100.2:c.462_463insGGAA	NP_001315029.1:p.Tyr155GlyfsTer6
NM_001122740.2:c.981_982insGGAA	NP_001116212.1:p.Tyr328GlyfsTer6
NM_001122741.2:c.981_982insGGAA	NP_001116213.1:p.Tyr328GlyfsTer6
NM_001122742.2:c.981_982insGGAA	NP_001116214.1:p.Tyr328GlyfsTer6
NM_001291230.2:c.987_988insGGAA	NP_001278159.1:p.Tyr330GlyfsTer6
NM_001291241.2:c.978_979insGGAA	NP_001278170.1:p.Tyr327GlyfsTer6
NM_001385568.1:c.981_982insGGAA	NP_001372497.1:p.Tyr328GlyfsTer6
NM_001385569.1:c.981_982insGGAA	NP_001372498.1:p.Tyr328GlyfsTer6
NM_001385570.1:c.981_982insGGAA	NP_001372499.1:p.Tyr328GlyfsTer6
NM_001385571.1:c.981_982insGGAA	NP_001372500.1:p.Tyr328GlyfsTer6
NM_001385572.1:c.981_982insGGAA	NP_001372501.1:p.Tyr328GlyfsTer6