Canonical Allele Identifier: CA2682431254

Gene: EPDR1 SFRP4

Linked Data

• gnomAD v4: 7-37949041-TAGATCCTGTA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.37949044_37949053del , CM000669.2:g.37949044_37949053del	GRCh38
NC_000007.13:g.37988646_37988655del , CM000669.1:g.37988646_37988655del	GRCh37
NC_000007.12:g.37955171_37955180del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000199448.9:c.474_478+5del (EPDR1)
ENST00000199448.8:c.474_478+5del (EPDR1)
ENST00000423717.1:c.270-1156_270-1147del (EPDR1)	ENSP00000409211.1:n.270-1156_270-1147del
ENST00000425345.1:c.291_295+5del (EPDR1)
ENST00000447200.2:c.-52-22277_-52-22268del (SFRP4)	ENSP00000402262.2:n.-52-22277_-52-22268del
ENST00000476620.1:c.168_172+5del (EPDR1)
NM_001242946.1:c.270-1156_270-1147del (EPDR1)	NP_001229875.2:n.270-1156_270-1147del
NM_001242948.1:c.291_295+5del (EPDR1)
NM_017549.4:c.474_478+5del (EPDR1)
NM_017549.5:c.474_478+5del (EPDR1)
NM_001242946.2:c.270-1156_270-1147del (EPDR1)	NP_001229875.2:n.270-1156_270-1147del
NM_001242948.2:c.291_295+5del (EPDR1)