Canonical Allele Identifier: CA2684641444

Gene: TSPAN12

Linked Data

• gnomAD v4: 7-120788676-CA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.120788677del , CM000669.2:g.120788677del	GRCh38
NC_000007.13:g.120428731del , CM000669.1:g.120428731del	GRCh37
NC_000007.12:g.120215967del	NCBI36
NG_023203.1:g.74447del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222747.8:c.833del MANE Select	ENSP00000222747.3:p.Leu278ArgfsTer2
ENST00000222747.7:c.833del	ENSP00000222747.3:p.Leu278ArgfsTer2
ENST00000415871.5:c.833del	ENSP00000397699.1:p.Leu278ArgfsTer2
ENST00000450414.5:c.812del	ENSP00000397411.1:n.812del
NM_012338.3:c.833del	NP_036470.1:p.Leu278ArgfsTer2
XM_005250239.1:c.833del	XP_005250296.1:p.Leu278ArgfsTer2
XM_011515993.1:c.833del	XP_011514295.1:p.Leu278ArgfsTer2
XM_011515994.1:c.833del	XP_011514296.1:p.Leu278ArgfsTer2
XM_005250239.3:c.833del	XP_005250296.1:p.Leu278ArgfsTer2
XM_017011913.1:c.758del	XP_016867402.1:p.Leu253ArgfsTer2
NM_012338.4:c.833del MANE Select	NP_036470.1:p.Leu278ArgfsTer2