Canonical Allele Identifier: CA566495802

Gene: LHFPL5

Linked Data

• dbSNP Id: rs70975109
• gnomAD v2: 6-35791225-TACAC-T
• gnomAD v3: 6-35823448-TACAC-T
• gnomAD v4: 6-35823448-TACAC-T
• MyVariant Identifiers: chr6:g.35791228_35791231del (hg19) ; chr6:g.35791226_35791229del (hg19) ; chr6:g.35823451_35823454del (hg38) ; chr6:g.35823449_35823452del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.35823475_35823478del , CM000668.2:g.35823475_35823478del	GRCh38
NC_000006.11:g.35791252_35791255del , CM000668.1:g.35791252_35791255del	GRCh37
NC_000006.10:g.35899230_35899233del	NCBI36
NG_012184.1:g.23182_23185del
NG_012184.2:g.23182_23185del
NG_012184.3:g.31270_31273del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360215.3:c.*510_*513del MANE Select	ENSP00000353346.1:n.*510_*513del
ENST00000496656.2:n.578+3655_578+3658del
ENST00000651132.1:c.*510_*513del	ENSP00000498322.1:n.*510_*513del
ENST00000651676.1:c.*16+4012_*16+4015del	ENSP00000498699.1:n.*16+4012_*16+4015del
ENST00000651994.1:c.*590_*593del	ENSP00000498310.1:n.*590_*593del
ENST00000652718.1:c.508+4012_508+4015del	ENSP00000498866.1:n.508+4012_508+4015del
ENST00000360215.2:c.*510_*513del	ENSP00000353346.1:n.*510_*513del
ENST00000496656.1:n.812+3655_812+3658del
NM_182548.3:c.*510_*513del	NP_872354.1:n.*510_*513del
NM_182548.4:c.*510_*513del MANE Select	NP_872354.1:n.*510_*513del