Canonical Allele Identifier: CA899784568

Gene: TMEM43

Linked Data

• ClinVar Variation Id: 1677849
• ClinVar RCV Id: RCV002223530
• dbSNP Id: rs1301098386
• MyVariant Identifiers: chr3:g.14180724_14180731del (hg19) ; chr3:g.14139224_14139231del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.14139228_14139235del , CM000665.2:g.14139228_14139235del	GRCh38
NC_000003.11:g.14180728_14180735del , CM000665.1:g.14180728_14180735del	GRCh37
NC_000003.10:g.14155729_14155736del	NCBI36
NG_008975.1:g.19289_19296del , LRG_435:g.19289_19296del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000432444.2:c.*961_*968del	ENSP00000395617.1:n.*961_*968del
ENST00000306077.5:c.931_938del MANE Select	ENSP00000303992.5:p.Leu311SerfsTer?
ENST00000306077.4:c.931_938del	ENSP00000303992.4:p.Leu311SerfsTer?
ENST00000601399.3:n.258_265del
ENST00000608606.1:c.167_174del
NM_024334.2:c.931_938del , LRG_435t1:c.931_938del	NP_077310.1:p.Leu311SerfsTer?
XM_011534109.1:c.826_833del	XP_011532411.1:p.Leu276SerfsTer?
XM_017007176.2:c.826_833del	XP_016862665.1:p.Leu276SerfsTer?
NM_024334.3:c.931_938del MANE Select	NP_077310.1:p.Leu311SerfsTer?