Canonical Allele Identifier: CA824259585

Gene: LHFPL5

Linked Data

• dbSNP Id: rs57581979
• gnomAD v3: 6-35823477-A-ACTCTCTCTCTCT
• gnomAD v4: 6-35823477-A-ACTCTCTCTCTCT
• MyVariant Identifiers: chr6:g.35791254_35791255insCTCTCTCTCTCT (hg19) ; chr6:g.35823477_35823478insCTCTCTCTCTCT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.35823481_35823492dup , CM000668.2:g.35823481_35823492dup	GRCh38
NC_000006.11:g.35791258_35791269dup , CM000668.1:g.35791258_35791269dup	GRCh37
NC_000006.10:g.35899236_35899247dup	NCBI36
NG_012184.1:g.23188_23199dup
NG_012184.2:g.23188_23199dup
NG_012184.3:g.31276_31287dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360215.3:c.*516_*527dup MANE Select	ENSP00000353346.1:n.*516_*527dup
ENST00000496656.2:n.578+3661_578+3672dup
ENST00000651132.1:c.*516_*527dup	ENSP00000498322.1:n.*516_*527dup
ENST00000651676.1:c.*16+4018_*16+4029dup	ENSP00000498699.1:n.*16+4018_*16+4029dup
ENST00000651994.1:c.*596_*607dup	ENSP00000498310.1:n.*596_*607dup
ENST00000652718.1:c.508+4018_508+4029dup	ENSP00000498866.1:n.508+4018_508+4029dup
ENST00000360215.2:c.*516_*527dup	ENSP00000353346.1:n.*516_*527dup
ENST00000496656.1:n.812+3661_812+3672dup
NM_182548.3:c.*516_*527dup	NP_872354.1:n.*516_*527dup
NM_182548.4:c.*516_*527dup MANE Select	NP_872354.1:n.*516_*527dup