Canonical Allele Identifier: CA2161352874
Gene: TMEM121 HGNC NCBI

Linked Data

ClinVar Variation Id: 1801793
ClinVar RCV Id: RCV002463950
dbSNP Id: rs2084626657

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.105529712_105529714del , CM000676.2:g.105529712_105529714del GRCh38
NC_000014.8:g.105996049_105996051del , CM000676.1:g.105996049_105996051del GRCh37
NC_000014.7:g.105067094_105067096del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000392519.7:c.878_880del MANE Select ENSP00000376304.2:p.Val293_Pro294delinsAla
ENST00000392519.6:c.878_880del ENSP00000376304.2:p.Val293_Pro294delinsAla
ENST00000431372.1:c.878_880del ENSP00000407456.1:p.Val293_Pro294delinsAla
NM_025268.2:c.878_880del NP_079544.1:p.Val293_Pro294delinsAla
XM_005268101.2:c.878_880del XP_005268158.1:p.Val293_Pro294delinsAla
XM_006720261.2:c.878_880del XP_006720324.1:p.Val293_Pro294delinsAla
XM_011537185.1:c.878_880del XP_011535487.1:p.Val293_Pro294delinsAla
XM_011537186.1:c.878_880del XP_011535488.1:p.Val293_Pro294delinsAla
NM_001331238.1:c.878_880del NP_001318167.1:p.Val293_Pro294delinsAla
NM_025268.3:c.878_880del NP_079544.1:p.Val293_Pro294delinsAla
XM_006720261.3:c.878_880del XP_006720324.1:p.Val293_Pro294delinsAla
NM_025268.4:c.878_880del MANE Select NP_079544.1:p.Val293_Pro294delinsAla
NM_001331238.2:c.878_880del NP_001318167.1:p.Val293_Pro294delinsAla