Canonical Allele Identifier: CA10626542

Gene: LHFPL5

Linked Data

• ClinVar Variation Id: 356511
• ClinVar RCV Id: RCV000365292
• dbSNP Id: rs886061354
• gnomAD v3: 6-35823424-CATACAT-C
• gnomAD v4: 6-35823424-CATACAT-C
• MyVariant Identifiers: chr6:g.35791203_35791208del (hg19) ; chr6:g.35791202_35791207del (hg19) ; chr6:g.35823426_35823431del (hg38) ; chr6:g.35823425_35823430del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.35823426_35823431del , CM000668.2:g.35823426_35823431del	GRCh38
NC_000006.11:g.35791203_35791208del , CM000668.1:g.35791203_35791208del	GRCh37
NC_000006.10:g.35899181_35899186del	NCBI36
NG_012184.1:g.23133_23138del
NG_012184.2:g.23133_23138del
NG_012184.3:g.31221_31226del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360215.3:c.*461_*466del MANE Select	ENSP00000353346.1:n.*461_*466del
ENST00000496656.2:n.578+3606_578+3611del
ENST00000651132.1:c.*461_*466del	ENSP00000498322.1:n.*461_*466del
ENST00000651676.1:c.*16+3963_*16+3968del	ENSP00000498699.1:n.*16+3963_*16+3968del
ENST00000651994.1:c.*541_*546del	ENSP00000498310.1:n.*541_*546del
ENST00000652718.1:c.508+3963_508+3968del	ENSP00000498866.1:n.508+3963_508+3968del
ENST00000360215.2:c.*461_*466del	ENSP00000353346.1:n.*461_*466del
ENST00000496656.1:n.812+3606_812+3611del
NM_182548.3:c.*461_*466del	NP_872354.1:n.*461_*466del
NM_182548.4:c.*461_*466del MANE Select	NP_872354.1:n.*461_*466del