Canonical Allele Identifier: CA566495696

Gene: LHFPL5

Linked Data

• dbSNP Id: rs1352576898
• gnomAD v2: 6-35791163-T-TAC
• gnomAD v3: 6-35823386-T-TAC
• gnomAD v4: 6-35823386-T-TAC
• MyVariant Identifiers: chr6:g.35791165_35791175delinsCATACACACACAC (hg19) ; chr6:g.35791163_35791164insAC (hg19) ; chr6:g.35823388_35823398delinsCATACACACACAC (hg38) ; chr6:g.35823386_35823387insAC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.35823387_35823388insCA , CM000668.2:g.35823387_35823388insCA	GRCh38
NC_000006.11:g.35791164_35791165insCA , CM000668.1:g.35791164_35791165insCA	GRCh37
NC_000006.10:g.35899142_35899143insCA	NCBI36
NG_012184.1:g.23094_23095insCA
NG_012184.2:g.23094_23095insCA
NG_012184.3:g.31182_31183insCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360215.3:c.*422_*423insCA MANE Select	ENSP00000353346.1:n.*422_*423insCA
ENST00000496656.2:n.578+3567_578+3568insCA
ENST00000651132.1:c.*422_*423insCA	ENSP00000498322.1:n.*422_*423insCA
ENST00000651676.1:c.*16+3924_*16+3925insCA	ENSP00000498699.1:n.*16+3924_*16+3925insCA
ENST00000651994.1:c.*502_*503insCA	ENSP00000498310.1:n.*502_*503insCA
ENST00000652718.1:c.508+3924_508+3925insCA	ENSP00000498866.1:n.508+3924_508+3925insCA
ENST00000360215.2:c.*422_*423insCA	ENSP00000353346.1:n.*422_*423insCA
ENST00000496656.1:n.812+3567_812+3568insCA
NM_182548.3:c.*422_*423insCA	NP_872354.1:n.*422_*423insCA
NM_182548.4:c.*422_*423insCA MANE Select	NP_872354.1:n.*422_*423insCA