Canonical Allele Identifier: CA566335517
Gene: POU5F1 HGNC NCBI

Linked Data

dbSNP Id: rs1561867445
gnomAD v2: 6-31139958-C-CTCTGCAATCCCCT
gnomAD v3: 6-31172181-C-CTCTGCAATCCCCT
gnomAD v4: 6-31172181-C-CTCTGCAATCCCCT
MyVariant Identifiers: chr6:g.31139958_31139959insTCTGCAATCCCCT (hg19) chr6:g.31172181_31172182insTCTGCAATCCCCT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31172182_31172194dup , CM000668.2:g.31172182_31172194dup GRCh38
NC_000006.11:g.31139959_31139971dup , CM000668.1:g.31139959_31139971dup GRCh37
NC_000006.10:g.31247938_31247950dup NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000441888.7:c.-183-6147_-183-6135dup ENSP00000389359.2:n.-183-6147_-183-6135du...
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