Canonical Allele Identifier: CA566495804

Gene: LHFPL5

Linked Data

• dbSNP Id: rs1165443126
• gnomAD v2: 6-35791230-A-ACG
• gnomAD v3: 6-35823453-A-ACG
• gnomAD v4: 6-35823453-A-ACG
• MyVariant Identifiers: chr6:g.35791230_35791231insCG (hg19) ; chr6:g.35823453_35823454insCG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.35823454_35823455insGC , CM000668.2:g.35823454_35823455insGC	GRCh38
NC_000006.11:g.35791231_35791232insGC , CM000668.1:g.35791231_35791232insGC	GRCh37
NC_000006.10:g.35899209_35899210insGC	NCBI36
NG_012184.1:g.23161_23162insGC
NG_012184.2:g.23161_23162insGC
NG_012184.3:g.31249_31250insGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360215.3:c.*489_*490insGC MANE Select	ENSP00000353346.1:n.*489_*490insGC
ENST00000496656.2:n.578+3634_578+3635insGC
ENST00000651132.1:c.*489_*490insGC	ENSP00000498322.1:n.*489_*490insGC
ENST00000651676.1:c.*16+3991_*16+3992insGC	ENSP00000498699.1:n.*16+3991_*16+3992insGC
ENST00000651994.1:c.*569_*570insGC	ENSP00000498310.1:n.*569_*570insGC
ENST00000652718.1:c.508+3991_508+3992insGC	ENSP00000498866.1:n.508+3991_508+3992insGC
ENST00000360215.2:c.*489_*490insGC	ENSP00000353346.1:n.*489_*490insGC
ENST00000496656.1:n.812+3634_812+3635insGC
NM_182548.3:c.*489_*490insGC	NP_872354.1:n.*489_*490insGC
NM_182548.4:c.*489_*490insGC MANE Select	NP_872354.1:n.*489_*490insGC