Canonical Allele Identifier: CA2577516638

Gene: TMEM43

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.14141746_14141747insA , CM000665.2:g.14141746_14141747insA	GRCh38
NC_000003.11:g.14183246_14183247insA , CM000665.1:g.14183246_14183247insA	GRCh37
NC_000003.10:g.14158247_14158248insA	NCBI36
NG_008975.1:g.21807_21808insA , LRG_435:g.21807_21808insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000432444.2:c.*1184_*1185insA	ENSP00000395617.1:n.*1184_*1185insA
ENST00000306077.5:c.1154_1155insA MANE Select	ENSP00000303992.5:p.Pro386AlafsTer?
ENST00000306077.4:c.1154_1155insA	ENSP00000303992.4:p.Pro386AlafsTer?
ENST00000601399.3:n.327+2449_327+2450insA
ENST00000608606.1:c.236+2449_236+2450insA
ENST00000626721.1:n.19_20insA
NM_024334.2:c.1154_1155insA , LRG_435t1:c.1154_1155insA	NP_077310.1:p.Pro386AlafsTer?
XM_011534109.1:c.1049_1050insA	XP_011532411.1:p.Pro351AlafsTer?
XM_017007176.2:c.1049_1050insA	XP_016862665.1:p.Pro351AlafsTer?
NM_024334.3:c.1154_1155insA MANE Select	NP_077310.1:p.Pro386AlafsTer?