Canonical Allele Identifier: CA788393119
Gene: FREM3 HGNC NCBI

Linked Data

dbSNP Id: rs1431532523
MyVariant Identifiers: chr4:g.144616265_144616268del (hg19) chr4:g.143695112_143695115del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.143695115_143695118del , CM000666.2:g.143695115_143695118del GRCh38
NC_000004.11:g.144616268_144616271del , CM000666.1:g.144616268_144616271del GRCh37
NC_000004.10:g.144835718_144835721del NCBI36
NG_052820.1:g.10561_10564del

Transcript Alleles

HGVS Amino-acid Change
ENST00000329798.5:c.5185+376_5185+379del MANE Select ENSP00000332886.5:n.5185+376_5185+379del
NM_001168235.1:c.5185+376_5185+379del NP_001161707.1:n.5185+376_5185+379del
NM_001168235.2:c.5185+376_5185+379del MANE Select NP_001161707.1:n.5185+376_5185+379del
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