Canonical Allele Identifier: CA614200901
Gene: FRMD6 HGNC NCBI

Linked Data

dbSNP Id: rs1219217799
gnomAD v2: 14-52077044-T-TC
gnomAD v3: 14-51610326-T-TC
gnomAD v4: 14-51610326-T-TC
MyVariant Identifiers: chr14:g.52077044_52077045insC (hg19) chr14:g.51610326_51610327insC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.51610329dup , CM000676.2:g.51610329dup GRCh38
NC_000014.8:g.52077047dup , CM000676.1:g.52077047dup GRCh37
NC_000014.7:g.51146797dup NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000356218.8:c.-147+39919dup ENSP00000348550.4:n.-147+39919dup
ENST00000554745.1:n.278-33123dup
ENST00000556137.5:n.508+39919dup
NM_001042481.2:c.-147+39919dup NP_001035946.1:n.-147+39919dup
XM_011536423.1:c.-147+39919dup XP_011534725.1:n.-147+39919dup
XM_011536424.1:c.-147+39919dup XP_011534726.1:n.-147+39919dup
XM_024449472.1:c.-147+39919dup XP_024305240.1:n.-147+39919dup
XM_024449473.1:c.-146-79362dup XP_024305241.1:n.-146-79362dup
NM_001042481.3:c.-147+39919dup NP_001035946.1:n.-147+39919dup
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