Canonical Allele Identifier: CA899776472

Gene: TMEM43

Linked Data

• dbSNP Id: rs10648308
• gnomAD v3: 3-14129307-TAAAAA-T
• gnomAD v4: 3-14129307-TAAAAA-T
• MyVariant Identifiers: chr3:g.14170808_14170812del (hg19) ; chr3:g.14129308_14129312del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.14129330_14129334del , CM000665.2:g.14129330_14129334del	GRCh38
NC_000003.11:g.14170830_14170834del , CM000665.1:g.14170830_14170834del	GRCh37
NC_000003.10:g.14145831_14145835del	NCBI36
NG_008975.1:g.9391_9395del , LRG_435:g.9391_9395del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000432444.2:c.*43-82_*43-78del	ENSP00000395617.1:n.*43-82_*43-78del
ENST00000306077.5:c.13-82_13-78del MANE Select	ENSP00000303992.5:n.13-82_13-78del
ENST00000306077.4:c.13-82_13-78del	ENSP00000303992.4:n.13-82_13-78del
ENST00000432444.1:c.*43-82_*43-78del	ENSP00000395617.1:n.*43-82_*43-78del
NM_024334.2:c.13-82_13-78del , LRG_435t1:c.13-82_13-78del	NP_077310.1:n.13-82_13-78del
XM_011534109.1:c.-93-82_-93-78del	XP_011532411.1:n.-93-82_-93-78del
XM_017007176.2:c.-93-82_-93-78del	XP_016862665.1:n.-93-82_-93-78del
NM_024334.3:c.13-82_13-78del MANE Select	NP_077310.1:n.13-82_13-78del