Canonical Allele Identifier: CA137313899

Gene: LHFPL5

Linked Data

• dbSNP Id: rs554217247
• gnomAD v2: 6-35791406-A-AGAGGGGG
• gnomAD v3: 6-35823629-A-AGAGGGGG
• gnomAD v4: 6-35823629-A-AGAGGGGG
• MyVariant Identifiers: chr6:g.35791406_35791407insGAGGGGG (hg19) ; chr6:g.35823629_35823630insGAGGGGG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.35823631_35823637dup , CM000668.2:g.35823631_35823637dup	GRCh38
NC_000006.11:g.35791408_35791414dup , CM000668.1:g.35791408_35791414dup	GRCh37
NC_000006.10:g.35899386_35899392dup	NCBI36
NG_012184.1:g.23338_23344dup
NG_012184.2:g.23338_23344dup
NG_012184.3:g.31426_31432dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360215.3:c.*666_*672dup MANE Select	ENSP00000353346.1:n.*666_*672dup
ENST00000496656.2:n.578+3811_578+3817dup
ENST00000651132.1:c.*666_*672dup	ENSP00000498322.1:n.*666_*672dup
ENST00000651676.1:c.*16+4168_*16+4174dup	ENSP00000498699.1:n.*16+4168_*16+4174dup
ENST00000651994.1:c.*746_*752dup	ENSP00000498310.1:n.*746_*752dup
ENST00000652718.1:c.508+4168_508+4174dup	ENSP00000498866.1:n.508+4168_508+4174dup
ENST00000360215.2:c.*666_*672dup	ENSP00000353346.1:n.*666_*672dup
ENST00000496656.1:n.812+3811_812+3817dup
NM_182548.3:c.*666_*672dup	NP_872354.1:n.*666_*672dup
NM_182548.4:c.*666_*672dup MANE Select	NP_872354.1:n.*666_*672dup