Canonical Allele Identifier: CA917723868

Gene: LHFPL5

Linked Data

• dbSNP Id: rs67626900
• gnomAD v3: 6-35823388-T-TACACAC
• gnomAD v4: 6-35823388-T-TACACAC

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.35823420_35823425dup , CM000668.2:g.35823420_35823425dup	GRCh38
NC_000006.11:g.35791197_35791202dup , CM000668.1:g.35791197_35791202dup	GRCh37
NC_000006.10:g.35899175_35899180dup	NCBI36
NG_012184.1:g.23127_23132dup
NG_012184.2:g.23127_23132dup
NG_012184.3:g.31215_31220dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360215.3:c.*455_*460dup MANE Select	ENSP00000353346.1:n.*455_*460dup
ENST00000496656.2:n.578+3600_578+3605dup
ENST00000651132.1:c.*455_*460dup	ENSP00000498322.1:n.*455_*460dup
ENST00000651676.1:c.*16+3957_*16+3962dup	ENSP00000498699.1:n.*16+3957_*16+3962dup
ENST00000651994.1:c.*535_*540dup	ENSP00000498310.1:n.*535_*540dup
ENST00000652718.1:c.508+3957_508+3962dup	ENSP00000498866.1:n.508+3957_508+3962dup
ENST00000360215.2:c.*455_*460dup	ENSP00000353346.1:n.*455_*460dup
ENST00000496656.1:n.812+3600_812+3605dup
NM_182548.3:c.*455_*460dup	NP_872354.1:n.*455_*460dup
NM_182548.4:c.*455_*460dup MANE Select	NP_872354.1:n.*455_*460dup