Canonical Allele Identifier: CA779800946

Gene: LOXHD1

Linked Data

• dbSNP Id: rs1416298510
• gnomAD v3: 18-46524743-CCTT-C
• gnomAD v4: 18-46524743-CCTT-C
• MyVariant Identifiers: chr18:g.44104707_44104709del (hg19) ; chr18:g.46524744_46524746del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.46524748_46524750del , CM000680.2:g.46524748_46524750del	GRCh38
NC_000018.9:g.44104711_44104713del , CM000680.1:g.44104711_44104713del	GRCh37
NC_000018.8:g.42358709_42358711del	NCBI36
NG_016646.1:g.137288_137290del
NG_016646.2:g.137288_137290del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000300591.11:c.1369_1371del	ENSP00000300591.6:p.Lys457del
ENST00000579038.6:c.1081_1083del	ENSP00000463285.1:p.Lys361del
ENST00000582408.6:c.1369_1371del	ENSP00000461964.1:p.Lys457del
ENST00000642948.1:c.4702_4704del MANE Select	ENSP00000496347.1:p.Lys1568del
ENST00000300591.10:c.1369_1371del	ENSP00000300591.6:p.Lys457del
ENST00000335730.6:n.4015_4017del
ENST00000441551.6:c.4084_4086del	ENSP00000387621.2:p.Lys1362del
ENST00000536736.5:c.4702_4704del	ENSP00000444586.1:p.Lys1568del
ENST00000579038.5:c.1081_1083del	ENSP00000463285.1:p.Lys361del
ENST00000582408.5:c.1369_1371del	ENSP00000461964.1:p.Lys457del
NM_001145472.2:c.1369_1371del	NP_001138944.1:p.Lys457del
NM_001308013.1:c.1081_1083del	NP_001294942.1:p.Lys361del
NM_144612.6:c.4702_4704del	NP_653213.6:p.Lys1568del
XM_006722388.2:c.1501_1503del	XP_006722451.1:p.Lys501del
XM_006722389.2:c.1369_1371del	XP_006722452.1:p.Lys457del
XM_006722390.2:c.1369_1371del	XP_006722453.1:p.Lys457del
XM_006722391.2:c.1501_1503del	XP_006722454.1:p.Lys501del
XM_011525803.1:c.4702_4704del	XP_011524105.1:p.Lys1568del
XM_011525804.1:c.2863_2865del	XP_011524106.1:p.Lys955del
XM_011525805.1:c.1366_1368del	XP_011524107.1:p.Lys456del
XM_011525806.1:c.1081_1083del	XP_011524108.1:p.Lys361del
XM_011525807.1:c.1081_1083del	XP_011524109.1:p.Lys361del
XM_011525809.1:c.1081_1083del	XP_011524111.1:p.Lys361del
XM_006722388.3:c.1501_1503del	XP_006722451.1:p.Lys501del
XM_006722389.3:c.1369_1371del	XP_006722452.1:p.Lys457del
XM_006722390.3:c.1369_1371del	XP_006722453.1:p.Lys457del
XM_006722391.3:c.1501_1503del	XP_006722454.1:p.Lys501del
XM_011525804.2:c.2863_2865del	XP_011524106.1:p.Lys955del
XM_017025548.1:c.4084_4086del	XP_016881037.1:p.Lys1362del
XM_024451084.1:c.3184_3186del	XP_024306852.1:p.Lys1062del
XM_024451085.1:c.1366_1368del	XP_024306853.1:p.Lys456del
XM_024451086.1:c.1081_1083del	XP_024306854.1:p.Lys361del
XM_024451087.1:c.1081_1083del	XP_024306855.1:p.Lys361del
XM_024451088.1:c.1081_1083del	XP_024306856.1:p.Lys361del
NM_001145472.3:c.1369_1371del	NP_001138944.1:p.Lys457del
NM_001308013.2:c.1081_1083del	NP_001294942.1:p.Lys361del
NM_001384474.1:c.4702_4704del MANE Select	NP_001371403.1:p.Lys1568del
NM_144612.7:c.4702_4704del	NP_653213.6:p.Lys1568del