Canonical Allele Identifier: CA1204368342

Gene: LMX1A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.165319042_165319047delinsCCCCAA , CM000663.2:g.165319042_165319047delinsCCCCAA	GRCh38
NC_000001.10:g.165288279_165288284delinsCCCCAA , CM000663.1:g.165288279_165288284delinsCCCCAA	GRCh37
NC_000001.9:g.163554903_163554908delinsCCCCAA	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294816.6:c.263+34029_263+34034delinsTTGGGG	ENSP00000294816.2:n.263+34029_263+34034delinsTTGGGG
ENST00000342310.7:c.263+34029_263+34034delinsTTGGGG MANE Select	ENSP00000340226.3:n.263+34029_263+34034delinsTTGGGG
ENST00000367893.4:c.263+34029_263+34034delinsTTGGGG	ENSP00000356868.4:n.263+34029_263+34034delinsTTGGGG
NM_001174069.1:c.263+34029_263+34034delinsTTGGGG	NP_001167540.1:n.263+34029_263+34034delinsTTGGGG
NM_177398.3:c.263+34029_263+34034delinsTTGGGG	NP_796372.1:n.263+34029_263+34034delinsTTGGGG
XM_011509540.1:c.263+34029_263+34034delinsTTGGGG	XP_011507842.1:n.263+34029_263+34034delinsTTGGGG
XM_011509540.2:c.263+34029_263+34034delinsTTGGGG	XP_011507842.1:n.263+34029_263+34034delinsTTGGGG
NM_177398.4:c.263+34029_263+34034delinsTTGGGG MANE Select	NP_796372.1:n.263+34029_263+34034delinsTTGGGG
NM_001174069.2:c.263+34029_263+34034delinsTTGGGG	NP_001167540.1:n.263+34029_263+34034delinsTTGGGG