Canonical Allele Identifier: CA4223270

Gene: EPDR1 SFRP4

Linked Data

• dbSNP Id: rs767378801
• ExAC: 7:37988666 ATC / A
• gnomAD v2: 7-37988666-ATC-A
• gnomAD v3: 7-37949064-ATC-A
• gnomAD v4: 7-37949064-ATC-A
• MyVariant Identifiers: chr7:g.37988667_37988668del (hg19) ; chr7:g.37949065_37949066del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.37949066_37949067del , CM000669.2:g.37949066_37949067del	GRCh38
NC_000007.13:g.37988668_37988669del , CM000669.1:g.37988668_37988669del	GRCh37
NC_000007.12:g.37955193_37955194del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000199448.9:c.478+18_478+19del (EPDR1) MANE Select	ENSP00000199448.4:n.478+18_478+19del
ENST00000199448.8:c.478+18_478+19del (EPDR1)	ENSP00000199448.4:n.478+18_478+19del
ENST00000423717.1:c.270-1134_270-1133del (EPDR1)	ENSP00000409211.1:n.270-1134_270-1133del
ENST00000425345.1:c.295+18_295+19del (EPDR1)	ENSP00000413359.1:n.295+18_295+19del
ENST00000447200.2:c.-52-22292_-52-22291del (SFRP4)	ENSP00000402262.2:n.-52-22292_-52-22291del
ENST00000476620.1:c.172+18_172+19del (EPDR1)	ENSP00000425858.1:n.172+18_172+19del
NM_001242946.1:c.270-1134_270-1133del (EPDR1)	NP_001229875.2:n.270-1134_270-1133del
NM_001242948.1:c.295+18_295+19del (EPDR1)	NP_001229877.1:n.295+18_295+19del
NM_017549.4:c.478+18_478+19del (EPDR1)	NP_060019.2:n.478+18_478+19del
NM_017549.5:c.478+18_478+19del (EPDR1) MANE Select	NP_060019.2:n.478+18_478+19del
NM_001242946.2:c.270-1134_270-1133del (EPDR1)	NP_001229875.2:n.270-1134_270-1133del
NM_001242948.2:c.295+18_295+19del (EPDR1)	NP_001229877.1:n.295+18_295+19del