Canonical Allele Identifier: CA629502717

Gene: LOXHD1

Linked Data

• dbSNP Id: rs1195671246
• gnomAD v2: 18-44159722-GCA-G
• gnomAD v4: 18-46579759-GCA-G
• MyVariant Identifiers: chr18:g.44159723_44159724del (hg19) ; chr18:g.46579760_46579761del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.46579764_46579765del , CM000680.2:g.46579764_46579765del	GRCh38
NC_000018.9:g.44159727_44159728del , CM000680.1:g.44159727_44159728del	GRCh37
NC_000018.8:g.42413725_42413726del	NCBI36
NG_016646.1:g.82273_82274del
NG_016646.2:g.82273_82274del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642948.1:c.1678_1679del MANE Select	ENSP00000496347.1:p.Cys560HisfsTer3
ENST00000335730.6:n.991_992del
ENST00000441551.6:c.1678_1679del	ENSP00000387621.2:p.Cys560HisfsTer3
ENST00000536736.5:c.1678_1679del	ENSP00000444586.1:p.Cys560HisfsTer3
NM_144612.6:c.1678_1679del	NP_653213.6:p.Cys560HisfsTer3
XM_011525803.1:c.1678_1679del	XP_011524105.1:p.Cys560HisfsTer3
XM_011525804.1:c.-30-1894_-30-1893del	XP_011524106.1:n.-30-1894_-30-1893del
XM_011525804.2:c.-30-1894_-30-1893del	XP_011524106.1:n.-30-1894_-30-1893del
XM_017025548.1:c.1678_1679del	XP_016881037.1:p.Cys560HisfsTer3
XM_024451084.1:c.160_161del	XP_024306852.1:p.Cys54HisfsTer3
NM_001384474.1:c.1678_1679del MANE Select	NP_001371403.1:p.Cys560HisfsTer3
NM_144612.7:c.1678_1679del	NP_653213.6:p.Cys560HisfsTer3