Canonical Allele Identifier: CA10635362

Gene: FLVCR2 TTLL5

Linked Data

• ClinVar Variation Id: 314433
• ClinVar RCV Id: RCV000392116
• dbSNP Id: rs138622317
• gnomAD v2: 14-76114226-A-ATG
• gnomAD v3: 14-75647883-A-ATG
• gnomAD v4: 14-75647883-A-ATG
• MyVariant Identifiers: chr14:g.76114242_76114243dupGT (hg19) ; chr14:g.76114228_76114229insTG (hg19) ; chr14:g.76114226_76114227insTG (hg19) ; chr14:g.75647899_75647900dupGT (hg38) ; chr14:g.75647885_75647886insTG (hg38) ; chr14:g.75647883_75647884insTG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.75647899_75647900dup , CM000676.2:g.75647899_75647900dup	GRCh38
NC_000014.8:g.76114242_76114243dup , CM000676.1:g.76114242_76114243dup	GRCh37
NC_000014.7:g.75183995_75183996dup	NCBI36
NG_027694.1:g.74303_74304dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000238667.9:c.*1427_*1428dup (FLVCR2) MANE Select	ENSP00000238667.4:n.*1427_*1428dup
ENST00000238667.8:c.*1427_*1428dup (FLVCR2)	ENSP00000238667.4:n.*1427_*1428dup
ENST00000553587.5:c.368+12886_368+12887dup (FLVCR2)	ENSP00000451603.1:n.368+12886_368+12887dup
ENST00000554132.1:n.72+14203_72+14204dup (TTLL5)
ENST00000555385.1:n.59-15156_59-15155dup (FLVCR2)
ENST00000556241.5:n.408+12886_408+12887dup (FLVCR2)
ENST00000556265.5:n.176+12886_176+12887dup (TTLL5)
NM_001195283.1:c.*1427_*1428dup (FLVCR2)	NP_001182212.1:n.*1427_*1428dup
NM_017791.2:c.*1427_*1428dup (FLVCR2)	NP_060261.2:n.*1427_*1428dup
NM_017791.3:c.*1427_*1428dup (FLVCR2) MANE Select	NP_060261.2:n.*1427_*1428dup
NM_001195283.2:c.*1427_*1428dup (FLVCR2)	NP_001182212.1:n.*1427_*1428dup