Canonical Allele Identifier: CA571119654
Gene: ESR1 HGNC NCBI

Linked Data

dbSNP Id: rs1440742623
gnomAD v2: 6-152432940-GT-G
gnomAD v3: 6-152111805-GT-G
gnomAD v4: 6-152111805-GT-G
MyVariant Identifiers: chr6:g.152432941del (hg19) chr6:g.152111806del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.152111809del , CM000668.2:g.152111809del GRCh38
NC_000006.11:g.152432944del , CM000668.1:g.152432944del GRCh37
NC_000006.10:g.152474637del NCBI36
NG_008493.2:g.460119del

Transcript Alleles

HGVS Amino-acid change
ENST00000641399.1:n.1071-6454del
ENST00000427531.6:c.851-13457del ENSP00000394721.2:n.851-13457del
NM_001328100.1:c.851-13457del NP_001315029.1:n.851-13457del
NM_001328100.2:c.851-13457del NP_001315029.1:n.851-13457del
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