Canonical Allele Identifier: CA32216988

Gene: LMX1A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.165249242_165249254del , CM000663.2:g.165249242_165249254del	GRCh38
NC_000001.10:g.165218479_165218491del , CM000663.1:g.165218479_165218491del	GRCh37
NC_000001.9:g.163485103_163485115del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_177398.4:c.496+156_496+168del MANE Select	NP_796372.1:n.496+156_496+168del
ENST00000342310.7:c.496+156_496+168del MANE Select	ENSP00000340226.3:n.496+156_496+168del
NM_001174069.1:c.496+156_496+168del	NP_001167540.1:n.496+156_496+168del
NM_001174069.2:c.496+156_496+168del	NP_001167540.1:n.496+156_496+168del
NM_177398.3:c.496+156_496+168del	NP_796372.1:n.496+156_496+168del
ENST00000294816.6:c.496+156_496+168del	ENSP00000294816.2:n.496+156_496+168del
ENST00000367893.4:c.496+156_496+168del	ENSP00000356868.4:n.496+156_496+168del
XM_011509538.1:c.256+156_256+168del	XP_011507840.1:n.256+156_256+168del
XM_011509538.3:c.256+156_256+168del	XP_011507840.1:n.256+156_256+168del
XM_011509539.1:c.244+156_244+168del	XP_011507841.1:n.244+156_244+168del
XM_011509540.1:c.496+156_496+168del	XP_011507842.1:n.496+156_496+168del
XM_011509540.2:c.496+156_496+168del	XP_011507842.1:n.496+156_496+168del
XR_922231.1:n.105+1833_105+1845del