Canonical Allele Identifier: CA053503

Gene: TMEM43

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.14132574_14132576del , CM000665.2:g.14132574_14132576del	GRCh38
NC_000003.11:g.14174074_14174076del , CM000665.1:g.14174074_14174076del	GRCh37
NC_000003.10:g.14149075_14149077del	NCBI36
NG_008975.1:g.12635_12637del , LRG_435:g.12635_12637del

Transcript Alleles

HGVS	Amino-acid Change
NM_024334.3:c.421_423del MANE Select	NP_077310.1:p.Lys141del
ENST00000306077.5:c.421_423del MANE Select	ENSP00000303992.5:p.Lys141del
NM_024334.2:c.421_423del , LRG_435t1:c.421_423del	NP_077310.1:p.Lys141del
ENST00000306077.4:c.421_423del	ENSP00000303992.4:p.Lys141del
ENST00000432444.1:c.*451_*453del	ENSP00000395617.1:n.*451_*453del
ENST00000432444.2:c.*451_*453del	ENSP00000395617.1:n.*451_*453del
XM_011534109.1:c.316_318del	XP_011532411.1:p.Lys106del
XM_017007176.2:c.316_318del	XP_016862665.1:p.Lys106del