Canonical Allele Identifier: CA2682431332

Gene: EPDR1 SFRP4

Linked Data

• gnomAD v4: 7-37949129-T-TC

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.37949129_37949130insC , CM000669.2:g.37949129_37949130insC	GRCh38
NC_000007.13:g.37988731_37988732insC , CM000669.1:g.37988731_37988732insC	GRCh37
NC_000007.12:g.37955256_37955257insC	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000199448.9:c.478+81_478+82insC (EPDR1) MANE Select	ENSP00000199448.4:n.478+81_478+82insC
ENST00000199448.8:c.478+81_478+82insC (EPDR1)	ENSP00000199448.4:n.478+81_478+82insC
ENST00000423717.1:c.270-1071_270-1070insC (EPDR1)	ENSP00000409211.1:n.270-1071_270-1070insC
ENST00000425345.1:c.295+81_295+82insC (EPDR1)	ENSP00000413359.1:n.295+81_295+82insC
ENST00000447200.2:c.-52-22356_-52-22355insG (SFRP4)	ENSP00000402262.2:n.-52-22356_-52-22355insG
ENST00000476620.1:c.172+81_172+82insC (EPDR1)	ENSP00000425858.1:n.172+81_172+82insC
NM_001242946.1:c.270-1071_270-1070insC (EPDR1)	NP_001229875.2:n.270-1071_270-1070insC
NM_001242948.1:c.295+81_295+82insC (EPDR1)	NP_001229877.1:n.295+81_295+82insC
NM_017549.4:c.478+81_478+82insC (EPDR1)	NP_060019.2:n.478+81_478+82insC
NM_017549.5:c.478+81_478+82insC (EPDR1) MANE Select	NP_060019.2:n.478+81_478+82insC
NM_001242946.2:c.270-1071_270-1070insC (EPDR1)	NP_001229875.2:n.270-1071_270-1070insC
NM_001242948.2:c.295+81_295+82insC (EPDR1)	NP_001229877.1:n.295+81_295+82insC