Canonical Allele Identifier: CA2678432741

Gene: LHFPL5

Linked Data

• gnomAD v4: 6-35806046-GTCTATAAGATC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.35806048_35806058del , CM000668.2:g.35806048_35806058del	GRCh38
NC_000006.11:g.35773825_35773835del , CM000668.1:g.35773825_35773835del	GRCh37
NC_000006.10:g.35881803_35881813del	NCBI36
NG_012184.1:g.5755_5765del
NG_012184.2:g.5755_5765del
NG_012184.3:g.13843_13853del

Transcript Alleles

HGVS	Amino-acid change
ENST00000360215.3:c.378_388del MANE Select	ENSP00000353346.1:p.Tyr127CysfsTer20
ENST00000651132.1:c.378_388del	ENSP00000498322.1:p.Tyr127CysfsTer20
ENST00000651676.1:c.378_388del	ENSP00000498699.1:p.Tyr127CysfsTer20
ENST00000651994.1:c.378_388del	ENSP00000498310.1:p.Tyr127CysfsTer21
ENST00000652718.1:c.210_220del	ENSP00000498866.1:p.Tyr71CysfsTer20
ENST00000360215.2:c.378_388del	ENSP00000353346.1:p.Tyr127CysfsTer20
NM_182548.3:c.378_388del	NP_872354.1:p.Tyr127CysfsTer20
XM_011514403.1:c.378_388del	XP_011512705.1:p.Tyr127CysfsTer20
NM_182548.4:c.378_388del MANE Select	NP_872354.1:p.Tyr127CysfsTer20