Canonical Allele Identifier: CA1087852047

Gene: LHFPL5

Linked Data

• dbSNP Id: rs1768910389
• gnomAD v3: 6-35823426-TACATACACACACACATATATATACACACACACACACACACACACACACACA-T
• gnomAD v4: 6-35823426-TACATACACACACACATATATATACACACACACACACACACACACACACACA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.35823427_35823477del , CM000668.2:g.35823427_35823477del	GRCh38
NC_000006.11:g.35791204_35791254del , CM000668.1:g.35791204_35791254del	GRCh37
NC_000006.10:g.35899182_35899232del	NCBI36
NG_012184.1:g.23134_23184del
NG_012184.2:g.23134_23184del
NG_012184.3:g.31222_31272del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360215.3:c.*462_*512del MANE Select	ENSP00000353346.1:n.*462_*512del
ENST00000496656.2:n.578+3607_578+3657del
ENST00000651132.1:c.*462_*512del	ENSP00000498322.1:n.*462_*512del
ENST00000651676.1:c.*16+3964_*16+4014del	ENSP00000498699.1:n.*16+3964_*16+4014del
ENST00000651994.1:c.*542_*592del	ENSP00000498310.1:n.*542_*592del
ENST00000652718.1:c.508+3964_508+4014del	ENSP00000498866.1:n.508+3964_508+4014del
ENST00000360215.2:c.*462_*512del	ENSP00000353346.1:n.*462_*512del
ENST00000496656.1:n.812+3607_812+3657del
NM_182548.3:c.*462_*512del	NP_872354.1:n.*462_*512del
NM_182548.4:c.*462_*512del MANE Select	NP_872354.1:n.*462_*512del