Canonical Allele Identifier: CA2300872204
Gene: LOXHD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.46524743_46524746delinsCCTT , CM000680.2:g.46524743_46524746delinsCCTT GRCh38
NC_000018.9:g.44104706_44104709delinsCCTT , CM000680.1:g.44104706_44104709delinsCCTT GRCh37
NC_000018.8:g.42358704_42358707delinsCCTT NCBI36
NG_016646.1:g.137288_137291delinsAAGG
NG_016646.2:g.137288_137291delinsAAGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000300591.11:c.1369_1372delinsAAGG ENSP00000300591.6:p.Lys457=
ENST00000579038.6:c.1081_1084delinsAAGG ENSP00000463285.1:p.Lys361=
ENST00000582408.6:c.1369_1372delinsAAGG ENSP00000461964.1:p.Lys457=
ENST00000642948.1:c.4702_4705delinsAAGG MANE Select ENSP00000496347.1:p.Lys1568=
ENST00000300591.10:c.1369_1372delinsAAGG ENSP00000300591.6:p.Lys457=
ENST00000335730.6:n.4015_4018delinsAAGG
ENST00000441551.6:c.4084_4087delinsAAGG ENSP00000387621.2:p.Lys1362=
ENST00000536736.5:c.4702_4705delinsAAGG ENSP00000444586.1:p.Lys1568=
ENST00000579038.5:c.1081_1084delinsAAGG ENSP00000463285.1:p.Lys361=
ENST00000582408.5:c.1369_1372delinsAAGG ENSP00000461964.1:p.Lys457=
NM_001145472.2:c.1369_1372delinsAAGG NP_001138944.1:p.Lys457=
NM_001308013.1:c.1081_1084delinsAAGG NP_001294942.1:p.Lys361=
NM_144612.6:c.4702_4705delinsAAGG NP_653213.6:p.Lys1568=
XM_006722388.2:c.1501_1504delinsAAGG XP_006722451.1:p.Lys501=
XM_006722389.2:c.1369_1372delinsAAGG XP_006722452.1:p.Lys457=
XM_006722390.2:c.1369_1372delinsAAGG XP_006722453.1:p.Lys457=
XM_006722391.2:c.1501_1504delinsAAGG XP_006722454.1:p.Lys501=
XM_011525803.1:c.4702_4705delinsAAGG XP_011524105.1:p.Lys1568=
XM_011525804.1:c.2863_2866delinsAAGG XP_011524106.1:p.Lys955=
XM_011525805.1:c.1366_1369delinsAAGG XP_011524107.1:p.Lys456=
XM_011525806.1:c.1081_1084delinsAAGG XP_011524108.1:p.Lys361=
XM_011525807.1:c.1081_1084delinsAAGG XP_011524109.1:p.Lys361=
XM_011525809.1:c.1081_1084delinsAAGG XP_011524111.1:p.Lys361=
XM_006722388.3:c.1501_1504delinsAAGG XP_006722451.1:p.Lys501=
XM_006722389.3:c.1369_1372delinsAAGG XP_006722452.1:p.Lys457=
XM_006722390.3:c.1369_1372delinsAAGG XP_006722453.1:p.Lys457=
XM_006722391.3:c.1501_1504delinsAAGG XP_006722454.1:p.Lys501=
XM_011525804.2:c.2863_2866delinsAAGG XP_011524106.1:p.Lys955=
XM_017025548.1:c.4084_4087delinsAAGG XP_016881037.1:p.Lys1362=
XM_024451084.1:c.3184_3187delinsAAGG XP_024306852.1:p.Lys1062=
XM_024451085.1:c.1366_1369delinsAAGG XP_024306853.1:p.Lys456=
XM_024451086.1:c.1081_1084delinsAAGG XP_024306854.1:p.Lys361=
XM_024451087.1:c.1081_1084delinsAAGG XP_024306855.1:p.Lys361=
XM_024451088.1:c.1081_1084delinsAAGG XP_024306856.1:p.Lys361=
NM_001145472.3:c.1369_1372delinsAAGG NP_001138944.1:p.Lys457=
NM_001308013.2:c.1081_1084delinsAAGG NP_001294942.1:p.Lys361=
NM_001384474.1:c.4702_4705delinsAAGG MANE Select NP_001371403.1:p.Lys1568=
NM_144612.7:c.4702_4705delinsAAGG NP_653213.6:p.Lys1568=