Canonical Allele Identifier: CA1346973740

Gene: TMEM43

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.14141444_14141452delinsACGAAGCTC , CM000665.2:g.14141444_14141452delinsACGAAGCTC	GRCh38
NC_000003.11:g.14182944_14182952delinsACGAAGCTC , CM000665.1:g.14182944_14182952delinsACGAAGCTC	GRCh37
NC_000003.10:g.14157945_14157953delinsACGAAGCTC	NCBI36
NG_008975.1:g.21505_21513delinsACGAAGCTC , LRG_435:g.21505_21513delinsACGAAGCTC

Transcript Alleles

HGVS	Amino-acid change
ENST00000432444.2:c.*1031-149_*1031-141delinsACGAAGCTC	ENSP00000395617.1:n.*1031-149_*1031-141delinsACGAAGCTC
ENST00000306077.5:c.1001-149_1001-141delinsACGAAGCTC MANE Select	ENSP00000303992.5:n.1001-149_1001-141delinsACGAAGCTC
ENST00000306077.4:c.1001-149_1001-141delinsACGAAGCTC	ENSP00000303992.4:n.1001-149_1001-141delinsACGAAGCTC
ENST00000601399.3:n.327+2147_327+2155delinsACGAAGCTC
ENST00000608606.1:c.236+2147_236+2155delinsACGAAGCTC
NM_024334.2:c.1001-149_1001-141delinsACGAAGCTC , LRG_435t1:c.1001-149_1001-141delinsACGAAGCTC	NP_077310.1:n.1001-149_1001-141delinsACGAAGCTC
XM_011534109.1:c.896-149_896-141delinsACGAAGCTC	XP_011532411.1:n.896-149_896-141delinsACGAAGCTC
XM_017007176.2:c.896-149_896-141delinsACGAAGCTC	XP_016862665.1:n.896-149_896-141delinsACGAAGCTC
NM_024334.3:c.1001-149_1001-141delinsACGAAGCTC MANE Select	NP_077310.1:n.1001-149_1001-141delinsACGAAGCTC