Canonical Allele Identifier: CA1087851993

Gene: LHFPL5

Linked Data

• dbSNP Id: rs1768903320
• gnomAD v3: 6-35823380-CATATATATACACACACACACACACACACACACACACACACACACATACATACACACACACATATATAT-C
• gnomAD v4: 6-35823380-CATATATATACACACACACACACACACACACACACACACACACACATACATACACACACACATATATAT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.35823382_35823449del , CM000668.2:g.35823382_35823449del	GRCh38
NC_000006.11:g.35791159_35791226del , CM000668.1:g.35791159_35791226del	GRCh37
NC_000006.10:g.35899137_35899204del	NCBI36
NG_012184.1:g.23089_23156del
NG_012184.2:g.23089_23156del
NG_012184.3:g.31177_31244del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360215.3:c.*417_*484del MANE Select	ENSP00000353346.1:n.*417_*484del
ENST00000496656.2:n.578+3562_578+3629del
ENST00000651132.1:c.*417_*484del	ENSP00000498322.1:n.*417_*484del
ENST00000651676.1:c.*16+3919_*16+3986del	ENSP00000498699.1:n.*16+3919_*16+3986del
ENST00000651994.1:c.*497_*564del	ENSP00000498310.1:n.*497_*564del
ENST00000652718.1:c.508+3919_508+3986del	ENSP00000498866.1:n.508+3919_508+3986del
ENST00000360215.2:c.*417_*484del	ENSP00000353346.1:n.*417_*484del
ENST00000496656.1:n.812+3562_812+3629del
NM_182548.3:c.*417_*484del	NP_872354.1:n.*417_*484del
NM_182548.4:c.*417_*484del MANE Select	NP_872354.1:n.*417_*484del