Canonical Allele Identifier: CA2680805430

Gene: ESR1

Linked Data

• gnomAD v4: 6-151944156-TCCAC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.151944158_151944161del , CM000668.2:g.151944158_151944161del	GRCh38
NC_000006.11:g.152265293_152265296del , CM000668.1:g.152265293_152265296del	GRCh37
NC_000006.10:g.152306986_152306989del	NCBI36
NG_008493.1:g.258663_258666del
NG_008493.2:g.292468_292471del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000206249.8:c.761-15_761-12del MANE Select	ENSP00000206249.3:n.761-15_761-12del
ENST00000641399.1:n.89-15_89-12del
ENST00000206249.7:c.761-15_761-12del	ENSP00000206249.3:n.761-15_761-12del
ENST00000338799.9:c.761-15_761-12del	ENSP00000342630.5:n.761-15_761-12del
ENST00000406599.5:c.453-116833_453-116830del	ENSP00000384064.1:n.453-116833_453-116830del
ENST00000415488.1:c.115+63387_115+63390del	ENSP00000401995.1:n.115+63387_115+63390del
ENST00000427531.6:c.242-15_242-12del	ENSP00000394721.2:n.242-15_242-12del
ENST00000440973.5:c.761-15_761-12del	ENSP00000405330.1:n.761-15_761-12del
ENST00000443427.5:c.761-15_761-12del	ENSP00000387500.1:n.761-15_761-12del
ENST00000456483.3:c.*110+63387_*110+63390del	ENSP00000415934.3:n.*110+63387_*110+63390del
NM_000125.3:c.761-15_761-12del	NP_000116.2:n.761-15_761-12del
NM_001122740.1:c.761-15_761-12del	NP_001116212.1:n.761-15_761-12del
NM_001122741.1:c.761-15_761-12del	NP_001116213.1:n.761-15_761-12del
NM_001122742.1:c.761-15_761-12del	NP_001116214.1:n.761-15_761-12del
NM_001291230.1:c.767-15_767-12del	NP_001278159.1:n.767-15_767-12del
NM_001291241.1:c.758-15_758-12del	NP_001278170.1:n.758-15_758-12del
XM_006715374.2:c.761-15_761-12del	XP_006715437.1:n.761-15_761-12del
XM_006715375.2:c.242-15_242-12del	XP_006715438.1:n.242-15_242-12del
XM_011535543.1:c.761-15_761-12del	XP_011533845.1:n.761-15_761-12del
XM_011535544.1:c.761-15_761-12del	XP_011533846.1:n.761-15_761-12del
XM_011535545.1:c.761-15_761-12del	XP_011533847.1:n.761-15_761-12del
XM_011535546.1:c.761-15_761-12del	XP_011533848.1:n.761-15_761-12del
XM_011535547.1:c.761-15_761-12del	XP_011533849.1:n.761-15_761-12del
XM_011535548.1:c.242-15_242-12del	XP_011533850.1:n.242-15_242-12del
XM_011535549.1:c.32-15_32-12del	XP_011533851.1:n.32-15_32-12del
NM_001328100.1:c.242-15_242-12del	NP_001315029.1:n.242-15_242-12del
XM_006715374.3:c.761-15_761-12del	XP_006715437.1:n.761-15_761-12del
XM_006715375.3:c.242-15_242-12del	XP_006715438.1:n.242-15_242-12del
XM_011535543.2:c.761-15_761-12del	XP_011533845.1:n.761-15_761-12del
XM_011535544.2:c.761-15_761-12del	XP_011533846.1:n.761-15_761-12del
XM_011535545.2:c.761-15_761-12del	XP_011533847.1:n.761-15_761-12del
XM_011535547.2:c.761-15_761-12del	XP_011533849.1:n.761-15_761-12del
XM_011535549.2:c.32-15_32-12del	XP_011533851.1:n.32-15_32-12del
XM_017010376.1:c.761-15_761-12del	XP_016865865.1:n.761-15_761-12del
XM_017010377.1:c.761-15_761-12del	XP_016865866.1:n.761-15_761-12del
XM_017010378.1:c.761-15_761-12del	XP_016865867.1:n.761-15_761-12del
XM_017010379.1:c.761-15_761-12del	XP_016865868.1:n.761-15_761-12del
XM_017010380.1:c.761-15_761-12del	XP_016865869.1:n.761-15_761-12del
XM_017010381.1:c.761-15_761-12del	XP_016865870.1:n.761-15_761-12del
XM_017010382.2:c.104-15_104-12del	XP_016865871.1:n.104-15_104-12del
XM_017010383.1:c.-29-15_-29-12del	XP_016865872.1:n.-29-15_-29-12del
XR_001743223.2:n.1131-15_1131-12del
XR_002956266.1:n.1131-15_1131-12del
NM_000125.4:c.761-15_761-12del MANE Select	NP_000116.2:n.761-15_761-12del
NM_001328100.2:c.242-15_242-12del	NP_001315029.1:n.242-15_242-12del
NM_001122740.2:c.761-15_761-12del	NP_001116212.1:n.761-15_761-12del
NM_001122741.2:c.761-15_761-12del	NP_001116213.1:n.761-15_761-12del
NM_001122742.2:c.761-15_761-12del	NP_001116214.1:n.761-15_761-12del
NM_001291230.2:c.767-15_767-12del	NP_001278159.1:n.767-15_767-12del
NM_001291241.2:c.758-15_758-12del	NP_001278170.1:n.758-15_758-12del
NM_001385568.1:c.761-15_761-12del	NP_001372497.1:n.761-15_761-12del
NM_001385569.1:c.761-15_761-12del	NP_001372498.1:n.761-15_761-12del
NM_001385570.1:c.761-15_761-12del	NP_001372499.1:n.761-15_761-12del
NM_001385571.1:c.761-15_761-12del	NP_001372500.1:n.761-15_761-12del
NM_001385572.1:c.761-15_761-12del	NP_001372501.1:n.761-15_761-12del