Canonical Allele Identifier: CA1087851985

Gene: LHFPL5

Linked Data

• dbSNP Id: rs1768902767
• gnomAD v3: 6-35823370-TACACACACACATATATATACACACACACACACACACACACACACACACACACACATACATACACACACACATATATATACACACACACACACACACACACACACACACTCTCTCTCTCTCTCAA-T
• gnomAD v4: 6-35823370-TACACACACACATATATATACACACACACACACACACACACACACACACACACACATACATACACACACACATATATATACACACACACACACACACACACACACACACTCTCTCTCTCTCTCAA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.35823380_35823503del , CM000668.2:g.35823380_35823503del	GRCh38
NC_000006.11:g.35791157_35791280del , CM000668.1:g.35791157_35791280del	GRCh37
NC_000006.10:g.35899135_35899258del	NCBI36
NG_012184.1:g.23087_23210del
NG_012184.2:g.23087_23210del
NG_012184.3:g.31175_31298del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360215.3:c.*415_*538del MANE Select	ENSP00000353346.1:n.*415_*538del
ENST00000496656.2:n.578+3560_578+3683del
ENST00000651132.1:c.*415_*538del	ENSP00000498322.1:n.*415_*538del
ENST00000651676.1:c.*16+3917_*16+4040del	ENSP00000498699.1:n.*16+3917_*16+4040del
ENST00000651994.1:c.*495_*618del	ENSP00000498310.1:n.*495_*618del
ENST00000652718.1:c.508+3917_508+4040del	ENSP00000498866.1:n.508+3917_508+4040del
ENST00000360215.2:c.*415_*538del	ENSP00000353346.1:n.*415_*538del
ENST00000496656.1:n.812+3560_812+3683del
NM_182548.3:c.*415_*538del	NP_872354.1:n.*415_*538del
NM_182548.4:c.*415_*538del MANE Select	NP_872354.1:n.*415_*538del