Canonical Allele Identifier: CA824258666

Gene: LHFPL5

Linked Data

• dbSNP Id: rs1177230249
• gnomAD v3: 6-35823382-TATATATACACAC-T
• gnomAD v4: 6-35823382-TATATATACACAC-T
• MyVariant Identifiers: chr6:g.35791160_35791171del (hg19) ; chr6:g.35823383_35823394del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.35823384_35823395del , CM000668.2:g.35823384_35823395del	GRCh38
NC_000006.11:g.35791161_35791172del , CM000668.1:g.35791161_35791172del	GRCh37
NC_000006.10:g.35899139_35899150del	NCBI36
NG_012184.1:g.23091_23102del
NG_012184.2:g.23091_23102del
NG_012184.3:g.31179_31190del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360215.3:c.*419_*430del MANE Select	ENSP00000353346.1:n.*419_*430del
ENST00000496656.2:n.578+3564_578+3575del
ENST00000651132.1:c.*419_*430del	ENSP00000498322.1:n.*419_*430del
ENST00000651676.1:c.*16+3921_*16+3932del	ENSP00000498699.1:n.*16+3921_*16+3932del
ENST00000651994.1:c.*499_*510del	ENSP00000498310.1:n.*499_*510del
ENST00000652718.1:c.508+3921_508+3932del	ENSP00000498866.1:n.508+3921_508+3932del
ENST00000360215.2:c.*419_*430del	ENSP00000353346.1:n.*419_*430del
ENST00000496656.1:n.812+3564_812+3575del
NM_182548.3:c.*419_*430del	NP_872354.1:n.*419_*430del
NM_182548.4:c.*419_*430del MANE Select	NP_872354.1:n.*419_*430del