Canonical Allele Identifier: CA2763851895
Gene: FREM3 HGNC NCBI
GUSBP5 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.143582559del , CM000666.2:g.143582559del GRCh38
NC_000004.11:g.144503712del , CM000666.1:g.144503712del GRCh37
NC_000004.10:g.144723162del NCBI36
NG_052820.1:g.123117del

Transcript Alleles

HGVS Amino-acid change
ENST00000329798.5:c.6178+3285del (FREM3) MANE Select ENSP00000332886.5:n.6178+3285del
ENST00000511042.5:n.191+9978del (GUSBP5)
NM_001168235.1:c.6178+3285del (FREM3) NP_001161707.1:n.6178+3285del
NM_001168235.2:c.6178+3285del (FREM3) MANE Select NP_001161707.1:n.6178+3285del
Search 100 bp 5'
Search 100 bp 3'