Canonical Allele Identifier: CA566495801

Gene: LHFPL5

Linked Data

• dbSNP Id: rs1472449979
• gnomAD v2: 6-35791223-TATACAC-T
• gnomAD v3: 6-35823446-TATACAC-T
• gnomAD v4: 6-35823446-TATACAC-T
• MyVariant Identifiers: chr6:g.35791224_35791229del (hg19) ; chr6:g.35791225_35791233delinsCAC (hg19) ; chr6:g.35823447_35823452del (hg38) ; chr6:g.35823448_35823456delinsCAC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.35823448_35823453del , CM000668.2:g.35823448_35823453del	GRCh38
NC_000006.11:g.35791225_35791230del , CM000668.1:g.35791225_35791230del	GRCh37
NC_000006.10:g.35899203_35899208del	NCBI36
NG_012184.1:g.23155_23160del
NG_012184.2:g.23155_23160del
NG_012184.3:g.31243_31248del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360215.3:c.*483_*488del MANE Select	ENSP00000353346.1:n.*483_*488del
ENST00000496656.2:n.578+3628_578+3633del
ENST00000651132.1:c.*483_*488del	ENSP00000498322.1:n.*483_*488del
ENST00000651676.1:c.*16+3985_*16+3990del	ENSP00000498699.1:n.*16+3985_*16+3990del
ENST00000651994.1:c.*563_*568del	ENSP00000498310.1:n.*563_*568del
ENST00000652718.1:c.508+3985_508+3990del	ENSP00000498866.1:n.508+3985_508+3990del
ENST00000360215.2:c.*483_*488del	ENSP00000353346.1:n.*483_*488del
ENST00000496656.1:n.812+3628_812+3633del
NM_182548.3:c.*483_*488del	NP_872354.1:n.*483_*488del
NM_182548.4:c.*483_*488del MANE Select	NP_872354.1:n.*483_*488del