Canonical Allele Identifier: CA1113098610
Gene: SFRP1 HGNC NCBI

Linked Data

gnomAD v3: 8-41262298-A-ACAGATCACCTGAGCCTCCTGCATCTATGCTCAAT
gnomAD v4: 8-41262298-A-ACAGATCACCTGAGCCTCCTGCATCTATGCTCAAT
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.41262326_41262327insCTCAATCAGATCACCTGAGCCTCCTGCATCTATG , CM000670.2:g.41262326_41262327insCTCAATCAGATCACCTGAGCCTCCTGCATCTATG GRCh38
NC_000008.10:g.41119845_41119846insCTCAATCAGATCACCTGAGCCTCCTGCATCTATG , CM000670.1:g.41119845_41119846insCTCAATCAGATCACCTGAGCCTCCTGCATCTATG GRCh37
NC_000008.9:g.41239002_41239003insCTCAATCAGATCACCTGAGCCTCCTGCATCTATG NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000220772.8:c.*2868_*2869insATTGAGCATAGATGCAGGAGGCTCAGGTGATCTG MANE Select ENSP00000220772.3:n.*2868_*2869insATTGAGCATAGATGCAGGAGGCTCAGG...
ENST00000220772.7:c.*2868_*2869insATTGAGCATAGATGCAGGAGGCTCAGGTGATCTG ENSP00000220772.3:n.*2868_*2869insATTGAGCATAGATGCAGGAGGCTCAGG...
ENST00000379845.3:c.*2868_*2869insATTGAGCATAGATGCAGGAGGCTCAGGTGATCTG ENSP00000369174.3:n.*2868_*2869insATTGAGCATAGATGCAGGAGGCTCAGG...
NM_003012.4:c.*2868_*2869insATTGAGCATAGATGCAGGAGGCTCAGGTGATCTG NP_003003.3:n.*2868_*2869insATTGAGCATAGATGCAGGAGGCTCAGGTGATCT...
NM_003012.5:c.*2868_*2869insATTGAGCATAGATGCAGGAGGCTCAGGTGATCTG MANE Select NP_003003.3:n.*2868_*2869insATTGAGCATAGATGCAGGAGGCTCAGGTGATCT...
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