Canonical Allele Identifier: CA2682431318

Gene: EPDR1 SFRP4

Linked Data

• gnomAD v4: 7-37949099-AAAGGTTTAAGTCCTTT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.37949104_37949119del , CM000669.2:g.37949104_37949119del	GRCh38
NC_000007.13:g.37988706_37988721del , CM000669.1:g.37988706_37988721del	GRCh37
NC_000007.12:g.37955231_37955246del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000199448.9:c.478+56_478+71del (EPDR1) MANE Select	ENSP00000199448.4:n.478+56_478+71del
ENST00000199448.8:c.478+56_478+71del (EPDR1)	ENSP00000199448.4:n.478+56_478+71del
ENST00000423717.1:c.270-1096_270-1081del (EPDR1)	ENSP00000409211.1:n.270-1096_270-1081del
ENST00000425345.1:c.295+56_295+71del (EPDR1)	ENSP00000413359.1:n.295+56_295+71del
ENST00000447200.2:c.-52-22341_-52-22326del (SFRP4)	ENSP00000402262.2:n.-52-22341_-52-22326del
ENST00000476620.1:c.172+56_172+71del (EPDR1)	ENSP00000425858.1:n.172+56_172+71del
NM_001242946.1:c.270-1096_270-1081del (EPDR1)	NP_001229875.2:n.270-1096_270-1081del
NM_001242948.1:c.295+56_295+71del (EPDR1)	NP_001229877.1:n.295+56_295+71del
NM_017549.4:c.478+56_478+71del (EPDR1)	NP_060019.2:n.478+56_478+71del
NM_017549.5:c.478+56_478+71del (EPDR1) MANE Select	NP_060019.2:n.478+56_478+71del
NM_001242946.2:c.270-1096_270-1081del (EPDR1)	NP_001229875.2:n.270-1096_270-1081del
NM_001242948.2:c.295+56_295+71del (EPDR1)	NP_001229877.1:n.295+56_295+71del