Canonical Allele Identifier: CA1008678981

Gene: LMX1A

Linked Data

• dbSNP Id: rs978151291
• gnomAD v3: 1-165319299-ACC-A
• gnomAD v4: 1-165319299-ACC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.165319301_165319302del , CM000663.2:g.165319301_165319302del	GRCh38
NC_000001.10:g.165288538_165288539del , CM000663.1:g.165288538_165288539del	GRCh37
NC_000001.9:g.163555162_163555163del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294816.6:c.263+33775_263+33776del	ENSP00000294816.2:n.263+33775_263+33776del
ENST00000342310.7:c.263+33775_263+33776del MANE Select	ENSP00000340226.3:n.263+33775_263+33776del
ENST00000367893.4:c.263+33775_263+33776del	ENSP00000356868.4:n.263+33775_263+33776del
NM_001174069.1:c.263+33775_263+33776del	NP_001167540.1:n.263+33775_263+33776del
NM_177398.3:c.263+33775_263+33776del	NP_796372.1:n.263+33775_263+33776del
XM_011509540.1:c.263+33775_263+33776del	XP_011507842.1:n.263+33775_263+33776del
XM_011509540.2:c.263+33775_263+33776del	XP_011507842.1:n.263+33775_263+33776del
NM_177398.4:c.263+33775_263+33776del MANE Select	NP_796372.1:n.263+33775_263+33776del
NM_001174069.2:c.263+33775_263+33776del	NP_001167540.1:n.263+33775_263+33776del