Canonical Allele Identifier: CA9878948
Gene: EPPIN-WFDC6 HGNC NCBI
EPPIN HGNC NCBI

Linked Data

dbSNP Id: rs780362044
ExAC: 20:44176048 TG / T
gnomAD v2: 20-44176048-TG-T
gnomAD v4: 20-45547409-TG-T
MyVariant Identifiers: chr20:g.44176049del (hg19) chr20:g.45547410del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.45547410del , CM000682.2:g.45547410del GRCh38
NC_000020.10:g.44176049del , CM000682.1:g.44176049del GRCh37
NC_000020.9:g.43609463del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000651288.1:c.-53del (EPPIN-WFDC6) ENSP00000498632.1:n.-53del
ENST00000354280.8:c.-53del (EPPIN) ENSP00000361746.3:n.-53del
ENST00000409554.1:c.-53del (EPPIN) ENSP00000387153.1:n.-53del
ENST00000504988.1:c.-53del (EPPIN-WFDC6) ENSP00000424176.1:n.-53del
NM_001198986.1:c.-53del (EPPIN-WFDC6) NP_001185915.1:n.-53del
NM_001302861.1:c.-53del (EPPIN) NP_001289790.1:n.-53del
NM_020398.3:c.-53del (EPPIN) NP_065131.1:n.-53del
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