Canonical Allele Identifier: CA1139657905

Gene: TMEM43

Linked Data

• ClinVar Variation Id: 922552
• ClinVar RCV Id: RCV001182671 ; RCV004033078
• dbSNP Id: rs1695250554

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.14141741_14141742delinsTA , CM000665.2:g.14141741_14141742delinsTA	GRCh38
NC_000003.11:g.14183241_14183242delinsTA , CM000665.1:g.14183241_14183242delinsTA	GRCh37
NC_000003.10:g.14158242_14158243delinsTA	NCBI36
NG_008975.1:g.21802_21803delinsTA , LRG_435:g.21802_21803delinsTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000432444.2:c.*1179_*1180delinsTA	ENSP00000395617.1:n.*1179_*1180delinsTA
ENST00000306077.5:c.1149_1150delinsTA MANE Select	ENSP00000303992.5:p.Leu384Ile
ENST00000306077.4:c.1149_1150delinsTA	ENSP00000303992.4:p.Leu384Ile
ENST00000601399.3:n.327+2444_327+2445delinsTA
ENST00000608606.1:c.236+2444_236+2445delinsTA
ENST00000626721.1:n.14_15delinsTA
NM_024334.2:c.1149_1150delinsTA , LRG_435t1:c.1149_1150delinsTA	NP_077310.1:p.Leu384Ile
XM_011534109.1:c.1044_1045delinsTA	XP_011532411.1:p.Leu349Ile
XM_017007176.2:c.1044_1045delinsTA	XP_016862665.1:p.Leu349Ile
NM_024334.3:c.1149_1150delinsTA MANE Select	NP_077310.1:p.Leu384Ile