Canonical Allele Identifier: CA10626713

Gene: LHFPL5

Linked Data

• ClinVar Variation Id: 356503
• ClinVar RCV Id: RCV000338516
• dbSNP Id: rs67626900
• gnomAD v2: 6-35791165-T-TAC
• gnomAD v3: 6-35823388-T-TAC
• gnomAD v4: 6-35823388-T-TAC
• MyVariant Identifiers: chr6:g.35791201_35791202dupCA (hg19) ; chr6:g.35791173_35791174insAC (hg19) ; chr6:g.35823424_35823425dupCA (hg38) ; chr6:g.35823396_35823397insAC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.35823424_35823425dup , CM000668.2:g.35823424_35823425dup	GRCh38
NC_000006.11:g.35791201_35791202dup , CM000668.1:g.35791201_35791202dup	GRCh37
NC_000006.10:g.35899179_35899180dup	NCBI36
NG_012184.1:g.23131_23132dup
NG_012184.2:g.23131_23132dup
NG_012184.3:g.31219_31220dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360215.3:c.*459_*460dup MANE Select	ENSP00000353346.1:n.*459_*460dup
ENST00000496656.2:n.578+3604_578+3605dup
ENST00000651132.1:c.*459_*460dup	ENSP00000498322.1:n.*459_*460dup
ENST00000651676.1:c.*16+3961_*16+3962dup	ENSP00000498699.1:n.*16+3961_*16+3962dup
ENST00000651994.1:c.*539_*540dup	ENSP00000498310.1:n.*539_*540dup
ENST00000652718.1:c.508+3961_508+3962dup	ENSP00000498866.1:n.508+3961_508+3962dup
ENST00000360215.2:c.*459_*460dup	ENSP00000353346.1:n.*459_*460dup
ENST00000496656.1:n.812+3604_812+3605dup
NM_182548.3:c.*459_*460dup	NP_872354.1:n.*459_*460dup
NM_182548.4:c.*459_*460dup MANE Select	NP_872354.1:n.*459_*460dup