Canonical Allele Identifier: CA1346973904

Gene: TMEM43

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.14141741_14141742delinsCC , CM000665.2:g.14141741_14141742delinsCC	GRCh38
NC_000003.11:g.14183241_14183242delinsCC , CM000665.1:g.14183241_14183242delinsCC	GRCh37
NC_000003.10:g.14158242_14158243delinsCC	NCBI36
NG_008975.1:g.21802_21803delinsCC , LRG_435:g.21802_21803delinsCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000432444.2:c.*1179_*1180delinsCC	ENSP00000395617.1:n.*1179_*1180delinsCC
ENST00000306077.5:c.1149_1150delinsCC MANE Select	ENSP00000303992.5:p.Ala383=
ENST00000306077.4:c.1149_1150delinsCC	ENSP00000303992.4:p.Ala383=
ENST00000601399.3:n.327+2444_327+2445delinsCC
ENST00000608606.1:c.236+2444_236+2445delinsCC
ENST00000626721.1:n.14_15delinsCC
NM_024334.2:c.1149_1150delinsCC , LRG_435t1:c.1149_1150delinsCC	NP_077310.1:p.Ala383=
XM_011534109.1:c.1044_1045delinsCC	XP_011532411.1:p.Ala348=
XM_017007176.2:c.1044_1045delinsCC	XP_016862665.1:p.Ala348=
NM_024334.3:c.1149_1150delinsCC MANE Select	NP_077310.1:p.Ala383=