Canonical Allele Identifier: CA1087852003
Gene: LHFPL5 HGNC NCBI

Linked Data

dbSNP Id: rs1768905707
gnomAD v3: 6-35823392-CACACACACACACACACACACACACACACACACATACATACACACACACATATATAT-C
gnomAD v4: 6-35823392-CACACACACACACACACACACACACACACACACATACATACACACACACATATATAT-C
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.35823423_35823478del , CM000668.2:g.35823423_35823478del GRCh38
NC_000006.11:g.35791200_35791255del , CM000668.1:g.35791200_35791255del GRCh37
NC_000006.10:g.35899178_35899233del NCBI36
NG_012184.1:g.23130_23185del
NG_012184.2:g.23130_23185del
NG_012184.3:g.31218_31273del

Transcript Alleles

HGVS Amino-acid Change
ENST00000360215.3:c.*458_*513del MANE Select ENSP00000353346.1:n.*458_*513del
ENST00000496656.2:n.578+3603_578+3658del
ENST00000651132.1:c.*458_*513del ENSP00000498322.1:n.*458_*513del
ENST00000651676.1:c.*16+3960_*16+4015del ENSP00000498699.1:n.*16+3960_*16+4015del
ENST00000651994.1:c.*538_*593del ENSP00000498310.1:n.*538_*593del
ENST00000652718.1:c.508+3960_508+4015del ENSP00000498866.1:n.508+3960_508+4015del
ENST00000360215.2:c.*458_*513del ENSP00000353346.1:n.*458_*513del
ENST00000496656.1:n.812+3603_812+3658del
NM_182548.3:c.*458_*513del NP_872354.1:n.*458_*513del
NM_182548.4:c.*458_*513del MANE Select NP_872354.1:n.*458_*513del
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