Canonical Allele Identifier: CA2688039229
Gene: POP1 HGNC NCBI

Linked Data

gnomAD v4: 8-98158108-AT-A
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.98158113del , CM000670.2:g.98158113del GRCh38
NC_000008.10:g.99170341del , CM000670.1:g.99170341del GRCh37
NC_000008.9:g.99239517del NCBI36
NG_052869.1:g.45821del

Transcript Alleles

HGVS Amino-acid Change
ENST00000401707.7:c.2917del MANE Select ENSP00000385787.2:p.Ser973ProfsTer15
ENST00000349693.3:c.2917del ENSP00000339529.3:p.Ser973ProfsTer15
ENST00000401707.6:c.2917del ENSP00000385787.2:p.Ser973ProfsTer15
NM_001145860.1:c.2917del NP_001139332.1:p.Ser973ProfsTer15
NM_001145861.1:c.2917del NP_001139333.1:p.Ser973ProfsTer15
NM_015029.2:c.2917del NP_055844.2:p.Ser973ProfsTer15
NM_001145860.2:c.2917del MANE Select NP_001139332.1:p.Ser973ProfsTer15
NM_001145861.2:c.2917del NP_001139333.1:p.Ser973ProfsTer15
NM_015029.3:c.2917del NP_055844.2:p.Ser973ProfsTer15
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