Canonical Allele Identifier: CA3774366

Gene: LHFPL5

Linked Data

• dbSNP Id: rs753689088
• ExAC: 6:35773704 TCTC / T
• gnomAD v2: 6-35773704-TCTC-T
• gnomAD v4: 6-35805927-TCTC-T
• MyVariant Identifiers: chr6:g.35773705_35773707del (hg19) ; chr6:g.35805928_35805930del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.35805932_35805934del , CM000668.2:g.35805932_35805934del	GRCh38
NC_000006.11:g.35773709_35773711del , CM000668.1:g.35773709_35773711del	GRCh37
NC_000006.10:g.35881687_35881689del	NCBI36
NG_012184.1:g.5639_5641del
NG_012184.2:g.5639_5641del
NG_012184.3:g.13727_13729del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360215.3:c.262_264del MANE Select	ENSP00000353346.1:p.Ser88del
ENST00000651132.1:c.262_264del	ENSP00000498322.1:p.Ser88del
ENST00000651676.1:c.262_264del	ENSP00000498699.1:p.Ser88del
ENST00000651994.1:c.262_264del	ENSP00000498310.1:p.Ser88del
ENST00000652718.1:c.94_96del	ENSP00000498866.1:p.Ser32del
ENST00000360215.2:c.262_264del	ENSP00000353346.1:p.Ser88del
NM_182548.3:c.262_264del	NP_872354.1:p.Ser88del
XM_011514403.1:c.262_264del	XP_011512705.1:p.Ser88del
NM_182548.4:c.262_264del MANE Select	NP_872354.1:p.Ser88del