Canonical Allele Identifier: CA1087852077

Gene: LHFPL5

Linked Data

• dbSNP Id: rs1554147860
• gnomAD v3: 6-35823446-T-TACACAC
• gnomAD v4: 6-35823446-T-TACACAC

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.35823447_35823448insCACACA , CM000668.2:g.35823447_35823448insCACACA	GRCh38
NC_000006.11:g.35791224_35791225insCACACA , CM000668.1:g.35791224_35791225insCACACA	GRCh37
NC_000006.10:g.35899202_35899203insCACACA	NCBI36
NG_012184.1:g.23154_23155insCACACA
NG_012184.2:g.23154_23155insCACACA
NG_012184.3:g.31242_31243insCACACA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360215.3:c.*482_*483insCACACA MANE Select	ENSP00000353346.1:n.*482_*483insCACACA
ENST00000496656.2:n.578+3627_578+3628insCACACA
ENST00000651132.1:c.*482_*483insCACACA	ENSP00000498322.1:n.*482_*483insCACACA
ENST00000651676.1:c.*16+3984_*16+3985insCACACA	ENSP00000498699.1:n.*16+3984_*16+3985insCACACA
ENST00000651994.1:c.*562_*563insCACACA	ENSP00000498310.1:n.*562_*563insCACACA
ENST00000652718.1:c.508+3984_508+3985insCACACA	ENSP00000498866.1:n.508+3984_508+3985insCACACA
ENST00000360215.2:c.*482_*483insCACACA	ENSP00000353346.1:n.*482_*483insCACACA
ENST00000496656.1:n.812+3627_812+3628insCACACA
NM_182548.3:c.*482_*483insCACACA	NP_872354.1:n.*482_*483insCACACA
NM_182548.4:c.*482_*483insCACACA MANE Select	NP_872354.1:n.*482_*483insCACACA