Canonical Allele Identifier: CA824259520

Gene: LHFPL5

Linked Data

• dbSNP Id: rs1257968195
• gnomAD v3: 6-35823475-ACACT-A
• gnomAD v4: 6-35823475-ACACT-A
• MyVariant Identifiers: chr6:g.35791253_35791256del (hg19) ; chr6:g.35823476_35823479del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.35823477_35823480del , CM000668.2:g.35823477_35823480del	GRCh38
NC_000006.11:g.35791254_35791257del , CM000668.1:g.35791254_35791257del	GRCh37
NC_000006.10:g.35899232_35899235del	NCBI36
NG_012184.1:g.23184_23187del
NG_012184.2:g.23184_23187del
NG_012184.3:g.31272_31275del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360215.3:c.*512_*515del MANE Select	ENSP00000353346.1:n.*512_*515del
ENST00000496656.2:n.578+3657_578+3660del
ENST00000651132.1:c.*512_*515del	ENSP00000498322.1:n.*512_*515del
ENST00000651676.1:c.*16+4014_*16+4017del	ENSP00000498699.1:n.*16+4014_*16+4017del
ENST00000651994.1:c.*592_*595del	ENSP00000498310.1:n.*592_*595del
ENST00000652718.1:c.508+4014_508+4017del	ENSP00000498866.1:n.508+4014_508+4017del
ENST00000360215.2:c.*512_*515del	ENSP00000353346.1:n.*512_*515del
ENST00000496656.1:n.812+3657_812+3660del
NM_182548.3:c.*512_*515del	NP_872354.1:n.*512_*515del
NM_182548.4:c.*512_*515del MANE Select	NP_872354.1:n.*512_*515del