Canonical Allele Identifier: CA024611

Gene: TMEM43

Linked Data

• ClinVar Variation Id: 178816
• ClinVar RCV Id: RCV000155588 ; RCV000590766 ; RCV000617795 ; RCV000770179 ; RCV001081505
• dbSNP Id: rs371706980
• ExAC: 3:14172316 TC / T
• gnomAD v2: 3-14172316-TC-T
• gnomAD v3: 3-14130816-TC-T
• gnomAD v4: 3-14130816-TC-T
• MyVariant Identifiers: chr3:g.14172319del (hg19) ; chr3:g.14172317del (hg19) ; chr3:g.14130819del (hg38) ; chr3:g.14130817del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.14130819del , CM000665.2:g.14130819del	GRCh38
NC_000003.11:g.14172319del , CM000665.1:g.14172319del	GRCh37
NC_000003.10:g.14147320del	NCBI36
NG_008975.1:g.10880del , LRG_435:g.10880del

Transcript Alleles

HGVS	Amino-acid change
ENST00000432444.2:c.*193-3del	ENSP00000395617.1:n.*193-3del
ENST00000306077.5:c.163-3del MANE Select	ENSP00000303992.5:n.163-3del
ENST00000306077.4:c.163-3del	ENSP00000303992.4:n.163-3del
ENST00000432444.1:c.*193-3del	ENSP00000395617.1:n.*193-3del
NM_024334.2:c.163-3del , LRG_435t1:c.163-3del	NP_077310.1:n.163-3del
XM_011534109.1:c.58-3del	XP_011532411.1:n.58-3del
XM_017007176.2:c.58-3del	XP_016862665.1:n.58-3del
NM_024334.3:c.163-3del MANE Select	NP_077310.1:n.163-3del