Canonical Allele Identifier: CA1770581713
Gene: PEBP4 HGNC NCBI

Linked Data

dbSNP Id: rs1806022161
gnomAD v3: 8-22786127-CCAGCAATAGAAA-C
gnomAD v4: 8-22786127-CCAGCAATAGAAA-C
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.22786130_22786141del , CM000670.2:g.22786130_22786141del GRCh38
NC_000008.10:g.22643643_22643654del , CM000670.1:g.22643643_22643654del GRCh37
NC_000008.9:g.22699588_22699599del NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000256404.8:c.357+31498_357+31509del MANE Select ENSP00000256404.6:n.357+31498_357+31509de...
ENST00000256404.7:c.357+31498_357+31509del ENSP00000256404.6:n.357+31498_357+31509de...
NM_144962.2:c.357+31498_357+31509del NP_659399.2:n.357+31498_357+31509del
XM_011544413.1:c.357+31498_357+31509del XP_011542715.1:n.357+31498_357+31509del
XM_011544414.1:c.357+31498_357+31509del XP_011542716.1:n.357+31498_357+31509del
NM_001363233.1:c.357+31498_357+31509del NP_001350162.1:n.357+31498_357+31509del
NM_144962.3:c.357+31498_357+31509del MANE Select NP_659399.2:n.357+31498_357+31509del
NM_001363233.2:c.357+31498_357+31509del NP_001350162.1:n.357+31498_357+31509del
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