Canonical Allele Identifier: CA2682431260

Gene: EPDR1 SFRP4

Linked Data

• gnomAD v4: 7-37949047-C-CT

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.37949048dup , CM000669.2:g.37949048dup	GRCh38
NC_000007.13:g.37988650dup , CM000669.1:g.37988650dup	GRCh37
NC_000007.12:g.37955175dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000199448.9:c.478dup (EPDR1) MANE Select	ENSP00000199448.4:p.Tyr160LeufsTer2
ENST00000199448.8:c.478dup (EPDR1)	ENSP00000199448.4:p.Tyr160LeufsTer2
ENST00000423717.1:c.270-1152dup (EPDR1)	ENSP00000409211.1:n.270-1152dup
ENST00000425345.1:c.295dup (EPDR1)	ENSP00000413359.1:p.Tyr99LeufsTer2
ENST00000447200.2:c.-52-22274dup (SFRP4)	ENSP00000402262.2:n.-52-22274dup
ENST00000476620.1:c.172dup (EPDR1)	ENSP00000425858.1:p.Tyr58LeufsTer2
NM_001242946.1:c.270-1152dup (EPDR1)	NP_001229875.2:n.270-1152dup
NM_001242948.1:c.295dup (EPDR1)	NP_001229877.1:p.Tyr99LeufsTer2
NM_017549.4:c.478dup (EPDR1)	NP_060019.2:p.Tyr160LeufsTer2
NM_017549.5:c.478dup (EPDR1) MANE Select	NP_060019.2:p.Tyr160LeufsTer2
NM_001242946.2:c.270-1152dup (EPDR1)	NP_001229875.2:n.270-1152dup
NM_001242948.2:c.295dup (EPDR1)	NP_001229877.1:p.Tyr99LeufsTer2