Canonical Allele Identifier: CA899785717

Gene: TMEM43

Linked Data

• dbSNP Id: rs1321156114
• gnomAD v3: 3-14141444-ACGAAGCTC-A
• gnomAD v4: 3-14141444-ACGAAGCTC-A
• MyVariant Identifiers: chr3:g.14182945_14182952del (hg19) ; chr3:g.14141445_14141452del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.14141446_14141453del , CM000665.2:g.14141446_14141453del	GRCh38
NC_000003.11:g.14182946_14182953del , CM000665.1:g.14182946_14182953del	GRCh37
NC_000003.10:g.14157947_14157954del	NCBI36
NG_008975.1:g.21507_21514del , LRG_435:g.21507_21514del

Transcript Alleles

HGVS	Amino-acid change
ENST00000432444.2:c.*1031-147_*1031-140del	ENSP00000395617.1:n.*1031-147_*1031-140del
ENST00000306077.5:c.1001-147_1001-140del MANE Select	ENSP00000303992.5:n.1001-147_1001-140del
ENST00000306077.4:c.1001-147_1001-140del	ENSP00000303992.4:n.1001-147_1001-140del
ENST00000601399.3:n.327+2149_327+2156del
ENST00000608606.1:c.236+2149_236+2156del
NM_024334.2:c.1001-147_1001-140del , LRG_435t1:c.1001-147_1001-140del	NP_077310.1:n.1001-147_1001-140del
XM_011534109.1:c.896-147_896-140del	XP_011532411.1:n.896-147_896-140del
XM_017007176.2:c.896-147_896-140del	XP_016862665.1:n.896-147_896-140del
NM_024334.3:c.1001-147_1001-140del MANE Select	NP_077310.1:n.1001-147_1001-140del