Canonical Allele Identifier: CA137307549

Gene: LHFPL5

Linked Data

• dbSNP Id: rs1019121665
• gnomAD v3: 6-35805928-CT-C
• gnomAD v4: 6-35805928-CT-C
• MyVariant Identifiers: chr6:g.35773706del (hg19) ; chr6:g.35805929del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.35805929del , CM000668.2:g.35805929del	GRCh38
NC_000006.11:g.35773706del , CM000668.1:g.35773706del	GRCh37
NC_000006.10:g.35881684del	NCBI36
NG_012184.1:g.5636del
NG_012184.2:g.5636del
NG_012184.3:g.13724del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360215.3:c.259del MANE Select	ENSP00000353346.1:p.Ser87ProfsTer?
ENST00000651132.1:c.259del	ENSP00000498322.1:p.Ser87ProfsTer?
ENST00000651676.1:c.259del	ENSP00000498699.1:p.Ser87ProfsTer?
ENST00000651994.1:c.259del	ENSP00000498310.1:p.Ser87ProfsTer?
ENST00000652718.1:c.91del	ENSP00000498866.1:p.Ser31ProfsTer?
ENST00000360215.2:c.259del	ENSP00000353346.1:p.Ser87ProfsTer?
NM_182548.3:c.259del	NP_872354.1:p.Ser87ProfsTer?
XM_011514403.1:c.259del	XP_011512705.1:p.Ser87ProfsTer?
NM_182548.4:c.259del MANE Select	NP_872354.1:p.Ser87ProfsTer?