Canonical Allele Identifier: CA566703525

Gene: LHFPL5

Linked Data

• dbSNP Id: rs1447613481
• gnomAD v2: 6-35773613-ACACCGCAGGCAGGCTACTTCGGCCTTTTCTCCTACTGCGTGGGTAACGT-A
• gnomAD v4: 6-35805836-ACACCGCAGGCAGGCTACTTCGGCCTTTTCTCCTACTGCGTGGGTAACGT-A
• MyVariant Identifiers: chr6:g.35773614_35773662del (hg19) ; chr6:g.35805837_35805885del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.35805837_35805885del , CM000668.2:g.35805837_35805885del	GRCh38
NC_000006.11:g.35773614_35773662del , CM000668.1:g.35773614_35773662del	GRCh37
NC_000006.10:g.35881592_35881640del	NCBI36
NG_012184.1:g.5544_5592del
NG_012184.2:g.5544_5592del
NG_012184.3:g.13632_13680del

Transcript Alleles

HGVS	Amino-acid change
ENST00000360215.3:c.167_215del MANE Select	ENSP00000353346.1:p.Thr56SerfsTer13
ENST00000651132.1:c.167_215del	ENSP00000498322.1:p.Thr56SerfsTer13
ENST00000651676.1:c.167_215del	ENSP00000498699.1:p.Thr56SerfsTer13
ENST00000651994.1:c.167_215del	ENSP00000498310.1:p.Thr56SerfsTer13
ENST00000360215.2:c.167_215del	ENSP00000353346.1:p.Thr56SerfsTer13
NM_182548.3:c.167_215del	NP_872354.1:p.Thr56SerfsTer13
XM_011514403.1:c.167_215del	XP_011512705.1:p.Thr56SerfsTer13
NM_182548.4:c.167_215del MANE Select	NP_872354.1:p.Thr56SerfsTer13