Canonical Allele Identifier: CA7178018

Gene: L2HGDH

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50294261dup , CM000676.2:g.50294261dup	GRCh38
NC_000014.8:g.50760979dup , CM000676.1:g.50760979dup	GRCh37
NC_000014.7:g.49830729dup	NCBI36
NG_008092.1:g.22979dup

Transcript Alleles

HGVS	Amino-acid Change
NM_024884.3:c.409-5dup MANE Select	NP_079160.1:n.409-5dup
ENST00000267436.9:c.409-5dup MANE Select	ENSP00000267436.4:n.409-5dup
NM_024884.2:c.409-5dup	NP_079160.1:n.409-5dup
ENST00000261699.8:c.409-5dup	ENSP00000261699.4:n.409-5dup
ENST00000267436.8:c.409-5dup	ENSP00000267436.4:n.409-5dup
ENST00000421284.7:c.409-5dup	ENSP00000405559.3:n.409-5dup
ENST00000554191.5:c.*272-5dup	ENSP00000451194.1:n.*272-5dup
ENST00000555423.5:c.409-5dup	ENSP00000450494.1:n.409-5dup
ENST00000555610.1:c.409-5dup	ENSP00000452483.1:n.409-5dup
XM_005268075.3:c.409-5dup	XP_005268132.1:n.409-5dup
XM_005268075.5:c.409-5dup	XP_005268132.1:n.409-5dup
XM_011537166.1:c.298-5dup	XP_011535468.1:n.298-5dup
XM_011537166.3:c.298-5dup	XP_011535468.1:n.298-5dup
XM_011537167.1:c.274-5dup	XP_011535469.1:n.274-5dup
XM_011537167.3:c.274-5dup	XP_011535469.1:n.274-5dup
XM_017021655.2:c.298-5dup	XP_016877144.1:n.298-5dup
XM_017021656.2:c.-217-5dup	XP_016877145.1:n.-217-5dup
XM_017021657.2:c.-217-5dup	XP_016877146.1:n.-217-5dup
XM_017021658.1:c.409-5dup	XP_016877147.1:n.409-5dup
XR_943538.1:n.648-5dup