Canonical Allele Identifier: CA574229198

Gene: EPDR1 SFRP4

Linked Data

• dbSNP Id: rs1393771316
• gnomAD v2: 7-37988700-A-AAG
• MyVariant Identifiers: chr7:g.37988700_37988701insAG (hg19) ; chr7:g.37949098_37949099insAG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.37949099_37949100insGA , CM000669.2:g.37949099_37949100insGA	GRCh38
NC_000007.13:g.37988701_37988702insGA , CM000669.1:g.37988701_37988702insGA	GRCh37
NC_000007.12:g.37955226_37955227insGA	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000199448.9:c.478+51_478+52insGA (EPDR1) MANE Select	ENSP00000199448.4:n.478+51_478+52insGA
ENST00000199448.8:c.478+51_478+52insGA (EPDR1)	ENSP00000199448.4:n.478+51_478+52insGA
ENST00000423717.1:c.270-1101_270-1100insGA (EPDR1)	ENSP00000409211.1:n.270-1101_270-1100insGA
ENST00000425345.1:c.295+51_295+52insGA (EPDR1)	ENSP00000413359.1:n.295+51_295+52insGA
ENST00000447200.2:c.-52-22325_-52-22324insCT (SFRP4)	ENSP00000402262.2:n.-52-22325_-52-22324insCT
ENST00000476620.1:c.172+51_172+52insGA (EPDR1)	ENSP00000425858.1:n.172+51_172+52insGA
NM_001242946.1:c.270-1101_270-1100insGA (EPDR1)	NP_001229875.2:n.270-1101_270-1100insGA
NM_001242948.1:c.295+51_295+52insGA (EPDR1)	NP_001229877.1:n.295+51_295+52insGA
NM_017549.4:c.478+51_478+52insGA (EPDR1)	NP_060019.2:n.478+51_478+52insGA
NM_017549.5:c.478+51_478+52insGA (EPDR1) MANE Select	NP_060019.2:n.478+51_478+52insGA
NM_001242946.2:c.270-1101_270-1100insGA (EPDR1)	NP_001229875.2:n.270-1101_270-1100insGA
NM_001242948.2:c.295+51_295+52insGA (EPDR1)	NP_001229877.1:n.295+51_295+52insGA