Canonical Allele Identifier: CA2653070867

Gene: EPPIN EPPIN-WFDC6

Linked Data

• gnomAD v4: 20-45547313-GA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.45547314del , CM000682.2:g.45547314del	GRCh38
NC_000020.10:g.44175953del , CM000682.1:g.44175953del	GRCh37
NC_000020.9:g.43609367del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354280.9:c.44del (EPPIN) MANE Select	ENSP00000361746.4:p.Leu15ProfsTer2
ENST00000651288.1:c.44del (EPPIN-WFDC6)	ENSP00000498632.1:p.Leu15ProfsTer2
ENST00000354280.8:c.44del (EPPIN)	ENSP00000361746.3:p.Leu15ProfsTer2
ENST00000409554.1:c.44del (EPPIN)	ENSP00000387153.1:p.Leu15ProfsTer2
ENST00000496898.1:n.44del (EPPIN)
ENST00000504988.1:c.44del (EPPIN-WFDC6)	ENSP00000424176.1:p.Leu15ProfsTer2
NM_001198986.1:c.44del (EPPIN-WFDC6)	NP_001185915.1:p.Leu15ProfsTer2
NM_001302861.1:c.44del (EPPIN)	NP_001289790.1:p.Leu15ProfsTer2
NM_020398.3:c.44del (EPPIN)	NP_065131.1:p.Leu15ProfsTer2
NM_001198986.2:c.44del (EPPIN-WFDC6)	NP_001185915.1:p.Leu15ProfsTer2
NM_001302861.2:c.44del (EPPIN)	NP_001289790.1:p.Leu15ProfsTer2
NM_020398.4:c.44del (EPPIN) MANE Select	NP_065131.1:p.Leu15ProfsTer2