Canonical Allele Identifier: CA1113098580
Gene: SFRP1 HGNC NCBI

Linked Data

dbSNP Id: rs1803383319
gnomAD v3: 8-41262172-AGAG-A
gnomAD v4: 8-41262172-AGAG-A
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.41262176_41262178del , CM000670.2:g.41262176_41262178del GRCh38
NC_000008.10:g.41119695_41119697del , CM000670.1:g.41119695_41119697del GRCh37
NC_000008.9:g.41238852_41238854del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000220772.8:c.*2992_*2994del MANE Select ENSP00000220772.3:n.*2992_*2994del
ENST00000220772.7:c.*2992_*2994del ENSP00000220772.3:n.*2992_*2994del
ENST00000379845.3:c.*2992_*2994del ENSP00000369174.3:n.*2992_*2994del
NM_003012.4:c.*2992_*2994del NP_003003.3:n.*2992_*2994del
NM_003012.5:c.*2992_*2994del MANE Select NP_003003.3:n.*2992_*2994del
Search 100 bp 5'
Search 100 bp 3'