Canonical Allele Identifier: CA566495637

Gene: LHFPL5

Linked Data

• dbSNP Id: rs1200314877
• gnomAD v2: 6-35791147-T-TAC
• gnomAD v3: 6-35823370-T-TAC
• gnomAD v4: 6-35823370-T-TAC
• MyVariant Identifiers: chr6:g.35791159_35791171delinsCATATATATACACAC (hg19) ; chr6:g.35791147_35791148insAC (hg19) ; chr6:g.35823382_35823394delinsCATATATATACACAC (hg38) ; chr6:g.35823370_35823371insAC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.35823380_35823381dup , CM000668.2:g.35823380_35823381dup	GRCh38
NC_000006.11:g.35791157_35791158dup , CM000668.1:g.35791157_35791158dup	GRCh37
NC_000006.10:g.35899135_35899136dup	NCBI36
NG_012184.1:g.23087_23088dup
NG_012184.2:g.23087_23088dup
NG_012184.3:g.31175_31176dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360215.3:c.*415_*416dup MANE Select	ENSP00000353346.1:n.*415_*416dup
ENST00000496656.2:n.578+3560_578+3561dup
ENST00000651132.1:c.*415_*416dup	ENSP00000498322.1:n.*415_*416dup
ENST00000651676.1:c.*16+3917_*16+3918dup	ENSP00000498699.1:n.*16+3917_*16+3918dup
ENST00000651994.1:c.*495_*496dup	ENSP00000498310.1:n.*495_*496dup
ENST00000652718.1:c.508+3917_508+3918dup	ENSP00000498866.1:n.508+3917_508+3918dup
ENST00000360215.2:c.*415_*416dup	ENSP00000353346.1:n.*415_*416dup
ENST00000496656.1:n.812+3560_812+3561dup
NM_182548.3:c.*415_*416dup	NP_872354.1:n.*415_*416dup
XM_011514403.1:c.*415_*416dup	XP_011512705.1:n.*415_*416dup
NM_182548.4:c.*415_*416dup MANE Select	NP_872354.1:n.*415_*416dup