Canonical Allele Identifier: CA573962094

Gene: EPDR1 SFRP4

Linked Data

• dbSNP Id: rs1411873891
• gnomAD v2: 7-37988888-GAAC-G
• gnomAD v3: 7-37949286-GAAC-G
• gnomAD v4: 7-37949286-GAAC-G
• MyVariant Identifiers: chr7:g.37988889_37988891del (hg19) ; chr7:g.37949287_37949289del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.37949287_37949289del , CM000669.2:g.37949287_37949289del	GRCh38
NC_000007.13:g.37988889_37988891del , CM000669.1:g.37988889_37988891del	GRCh37
NC_000007.12:g.37955414_37955416del	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000199448.9:c.478+239_478+241del (EPDR1) MANE Select	ENSP00000199448.4:n.478+239_478+241del
ENST00000199448.8:c.478+239_478+241del (EPDR1)	ENSP00000199448.4:n.478+239_478+241del
ENST00000423717.1:c.270-913_270-911del (EPDR1)	ENSP00000409211.1:n.270-913_270-911del
ENST00000425345.1:c.295+239_295+241del (EPDR1)	ENSP00000413359.1:n.295+239_295+241del
ENST00000447200.2:c.-52-22515_-52-22513del (SFRP4)	ENSP00000402262.2:n.-52-22515_-52-22513del
ENST00000476620.1:c.172+239_172+241del (EPDR1)	ENSP00000425858.1:n.172+239_172+241del
NM_001242946.1:c.270-913_270-911del (EPDR1)	NP_001229875.2:n.270-913_270-911del
NM_001242948.1:c.295+239_295+241del (EPDR1)	NP_001229877.1:n.295+239_295+241del
NM_017549.4:c.478+239_478+241del (EPDR1)	NP_060019.2:n.478+239_478+241del
NM_017549.5:c.478+239_478+241del (EPDR1) MANE Select	NP_060019.2:n.478+239_478+241del
NM_001242946.2:c.270-913_270-911del (EPDR1)	NP_001229875.2:n.270-913_270-911del
NM_001242948.2:c.295+239_295+241del (EPDR1)	NP_001229877.1:n.295+239_295+241del