Canonical Allele Identifier: CA1087852020

Gene: LHFPL5

Linked Data

• dbSNP Id: rs1768907938
• gnomAD v3: 6-35823414-CACACACACACATACATACACACACACATATATAT-C
• gnomAD v4: 6-35823414-CACACACACACATACATACACACACACATATATAT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.35823426_35823459del , CM000668.2:g.35823426_35823459del	GRCh38
NC_000006.11:g.35791203_35791236del , CM000668.1:g.35791203_35791236del	GRCh37
NC_000006.10:g.35899181_35899214del	NCBI36
NG_012184.1:g.23133_23166del
NG_012184.2:g.23133_23166del
NG_012184.3:g.31221_31254del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360215.3:c.*461_*494del MANE Select	ENSP00000353346.1:n.*461_*494del
ENST00000496656.2:n.578+3606_578+3639del
ENST00000651132.1:c.*461_*494del	ENSP00000498322.1:n.*461_*494del
ENST00000651676.1:c.*16+3963_*16+3996del	ENSP00000498699.1:n.*16+3963_*16+3996del
ENST00000651994.1:c.*541_*574del	ENSP00000498310.1:n.*541_*574del
ENST00000652718.1:c.508+3963_508+3996del	ENSP00000498866.1:n.508+3963_508+3996del
ENST00000360215.2:c.*461_*494del	ENSP00000353346.1:n.*461_*494del
ENST00000496656.1:n.812+3606_812+3639del
NM_182548.3:c.*461_*494del	NP_872354.1:n.*461_*494del
NM_182548.4:c.*461_*494del MANE Select	NP_872354.1:n.*461_*494del