Canonical Allele Identifier: CA571119645

Gene: ESR1

Linked Data

• dbSNP Id: rs1402252891
• gnomAD v2: 6-152432906-GTCTC-G
• gnomAD v3: 6-152111771-GTCTC-G
• gnomAD v4: 6-152111771-GTCTC-G
• MyVariant Identifiers: chr6:g.152432907_152432910del (hg19) ; chr6:g.152111772_152111775del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152111772_152111775del , CM000668.2:g.152111772_152111775del	GRCh38
NC_000006.11:g.152432907_152432910del , CM000668.1:g.152432907_152432910del	GRCh37
NC_000006.10:g.152474600_152474603del	NCBI36
NG_008493.2:g.460082_460085del

Transcript Alleles

HGVS	Amino-acid change
ENST00000641399.1:n.1071-6491_1071-6488del
ENST00000427531.6:c.851-13494_851-13491del	ENSP00000394721.2:n.851-13494_851-13491de...
NM_001328100.1:c.851-13494_851-13491del	NP_001315029.1:n.851-13494_851-13491del
NM_001328100.2:c.851-13494_851-13491del	NP_001315029.1:n.851-13494_851-13491del