Canonical Allele Identifier: CA4223272

Gene: EPDR1 SFRP4

Linked Data

• dbSNP Id: rs750126645
• ExAC: 7:37988669 T / TG
• gnomAD v2: 7-37988669-T-TG
• MyVariant Identifiers: chr7:g.37988669_37988670insG (hg19) ; chr7:g.37949067_37949068insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.37949067_37949068insG , CM000669.2:g.37949067_37949068insG	GRCh38
NC_000007.13:g.37988669_37988670insG , CM000669.1:g.37988669_37988670insG	GRCh37
NC_000007.12:g.37955194_37955195insG	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000199448.9:c.478+19_478+20insG (EPDR1) MANE Select	ENSP00000199448.4:n.478+19_478+20insG
ENST00000199448.8:c.478+19_478+20insG (EPDR1)	ENSP00000199448.4:n.478+19_478+20insG
ENST00000423717.1:c.270-1133_270-1132insG (EPDR1)	ENSP00000409211.1:n.270-1133_270-1132insG
ENST00000425345.1:c.295+19_295+20insG (EPDR1)	ENSP00000413359.1:n.295+19_295+20insG
ENST00000447200.2:c.-52-22294_-52-22293insC (SFRP4)	ENSP00000402262.2:n.-52-22294_-52-22293insC
ENST00000476620.1:c.172+19_172+20insG (EPDR1)	ENSP00000425858.1:n.172+19_172+20insG
NM_001242946.1:c.270-1133_270-1132insG (EPDR1)	NP_001229875.2:n.270-1133_270-1132insG
NM_001242948.1:c.295+19_295+20insG (EPDR1)	NP_001229877.1:n.295+19_295+20insG
NM_017549.4:c.478+19_478+20insG (EPDR1)	NP_060019.2:n.478+19_478+20insG
NM_017549.5:c.478+19_478+20insG (EPDR1) MANE Select	NP_060019.2:n.478+19_478+20insG
NM_001242946.2:c.270-1133_270-1132insG (EPDR1)	NP_001229875.2:n.270-1133_270-1132insG
NM_001242948.2:c.295+19_295+20insG (EPDR1)	NP_001229877.1:n.295+19_295+20insG