Canonical Allele Identifier: CA137313940

Gene: LHFPL5

Linked Data

• dbSNP Id: rs142666834
• gnomAD v2: 6-35791477-A-AGTGG
• gnomAD v3: 6-35823700-A-AGTGG
• gnomAD v4: 6-35823700-A-AGTGG
• MyVariant Identifiers: chr6:g.35791477_35791478insGTGG (hg19) ; chr6:g.35823700_35823701insGTGG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.35823704_35823707dup , CM000668.2:g.35823704_35823707dup	GRCh38
NC_000006.11:g.35791481_35791484dup , CM000668.1:g.35791481_35791484dup	GRCh37
NC_000006.10:g.35899459_35899462dup	NCBI36
NG_012184.1:g.23411_23414dup
NG_012184.2:g.23411_23414dup
NG_012184.3:g.31499_31502dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360215.3:c.*739_*742dup MANE Select	ENSP00000353346.1:n.*739_*742dup
ENST00000496656.2:n.578+3884_578+3887dup
ENST00000651132.1:c.*739_*742dup	ENSP00000498322.1:n.*739_*742dup
ENST00000651676.1:c.*16+4241_*16+4244dup	ENSP00000498699.1:n.*16+4241_*16+4244dup
ENST00000651994.1:c.*819_*822dup	ENSP00000498310.1:n.*819_*822dup
ENST00000652718.1:c.508+4241_508+4244dup	ENSP00000498866.1:n.508+4241_508+4244dup
ENST00000360215.2:c.*739_*742dup	ENSP00000353346.1:n.*739_*742dup
ENST00000496656.1:n.812+3884_812+3887dup
NM_182548.3:c.*739_*742dup	NP_872354.1:n.*739_*742dup
NM_182548.4:c.*739_*742dup MANE Select	NP_872354.1:n.*739_*742dup