Canonical Allele Identifier: CA838194319
Gene: SFRP4 HGNC NCBI
EPDR1 HGNC NCBI

Linked Data

dbSNP Id: rs1219297285
gnomAD v3: 7-37906700-AGACAAACT-A
gnomAD v4: 7-37906700-AGACAAACT-A
MyVariant Identifiers: chr7:g.37946303_37946310del (hg19) chr7:g.37906701_37906708del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.37906701_37906708del , CM000669.2:g.37906701_37906708del GRCh38
NC_000007.13:g.37946303_37946310del , CM000669.1:g.37946303_37946310del GRCh37
NC_000007.12:g.37912828_37912835del NCBI36
NG_052980.1:g.15216_15223del

Transcript Alleles

HGVS Amino-acid change
ENST00000436072.7:c.*771_*778del (SFRP4) MANE Select ENSP00000410715.2:n.*771_*778del
ENST00000436072.6:c.*771_*778del (SFRP4) ENSP00000410715.2:n.*771_*778del
ENST00000476620.1:c.-37-42139_-37-42132del (EPDR1) ENSP00000425858.1:n.-37-42139_-37-42132de...
NM_003014.3:c.*771_*778del (SFRP4) NP_003005.2:n.*771_*778del
NM_003014.4:c.*771_*778del (SFRP4) MANE Select NP_003005.2:n.*771_*778del
Search 100 bp 5'
Search 100 bp 3'