Canonical Allele Identifier: CA832444387

Gene: TSPAN12

Linked Data

• dbSNP Id: rs1186854857
• gnomAD v3: 7-120788720-TC-T
• gnomAD v4: 7-120788720-TC-T
• MyVariant Identifiers: chr7:g.120428775del (hg19) ; chr7:g.120788721del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.120788721del , CM000669.2:g.120788721del	GRCh38
NC_000007.13:g.120428775del , CM000669.1:g.120428775del	GRCh37
NC_000007.12:g.120216011del	NCBI36
NG_023203.1:g.74403del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222747.8:c.789del MANE Select	ENSP00000222747.3:p.Lys264ArgfsTer13
ENST00000222747.7:c.789del	ENSP00000222747.3:p.Lys264ArgfsTer13
ENST00000415871.5:c.789del	ENSP00000397699.1:p.Lys264ArgfsTer13
ENST00000450414.5:c.768del	ENSP00000397411.1:n.768del
NM_012338.3:c.789del	NP_036470.1:p.Lys264ArgfsTer13
XM_005250239.1:c.789del	XP_005250296.1:p.Lys264ArgfsTer13
XM_011515993.1:c.789del	XP_011514295.1:p.Lys264ArgfsTer13
XM_011515994.1:c.789del	XP_011514296.1:p.Lys264ArgfsTer13
XM_005250239.3:c.789del	XP_005250296.1:p.Lys264ArgfsTer13
XM_017011913.1:c.714del	XP_016867402.1:p.Lys239ArgfsTer13
NM_012338.4:c.789del MANE Select	NP_036470.1:p.Lys264ArgfsTer13