Canonical Allele Identifier: CA10626732

Gene: LHFPL5

Linked Data

• ClinVar Variation Id: 356538
• ClinVar RCV Id: RCV000398228
• dbSNP Id: rs774401637
• gnomAD v2: 6-35791252-A-ACTCTCT
• gnomAD v3: 6-35823475-A-ACTCTCT
• gnomAD v4: 6-35823475-A-ACTCTCT
• MyVariant Identifiers: chr6:g.35791253_35791254insTCTCTC (hg19) ; chr6:g.35791252_35791253insCTCTCT (hg19) ; chr6:g.35823476_35823477insTCTCTC (hg38) ; chr6:g.35823475_35823476insCTCTCT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.35823476_35823477insTCTCTC , CM000668.2:g.35823476_35823477insTCTCTC	GRCh38
NC_000006.11:g.35791253_35791254insTCTCTC , CM000668.1:g.35791253_35791254insTCTCTC	GRCh37
NC_000006.10:g.35899231_35899232insTCTCTC	NCBI36
NG_012184.1:g.23183_23184insTCTCTC
NG_012184.2:g.23183_23184insTCTCTC
NG_012184.3:g.31271_31272insTCTCTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360215.3:c.*511_*512insTCTCTC MANE Select	ENSP00000353346.1:n.*511_*512insTCTCTC
ENST00000496656.2:n.578+3656_578+3657insTCTCTC
ENST00000651132.1:c.*511_*512insTCTCTC	ENSP00000498322.1:n.*511_*512insTCTCTC
ENST00000651676.1:c.*16+4013_*16+4014insTCTCTC	ENSP00000498699.1:n.*16+4013_*16+4014insTCTCTC
ENST00000651994.1:c.*591_*592insTCTCTC	ENSP00000498310.1:n.*591_*592insTCTCTC
ENST00000652718.1:c.508+4013_508+4014insTCTCTC	ENSP00000498866.1:n.508+4013_508+4014insTCTCTC
ENST00000360215.2:c.*511_*512insTCTCTC	ENSP00000353346.1:n.*511_*512insTCTCTC
ENST00000496656.1:n.812+3656_812+3657insTCTCTC
NM_182548.3:c.*511_*512insTCTCTC	NP_872354.1:n.*511_*512insTCTCTC
NM_182548.4:c.*511_*512insTCTCTC MANE Select	NP_872354.1:n.*511_*512insTCTCTC