Canonical Allele Identifier: CA577561365

Gene: TSPAN12

Linked Data

• dbSNP Id: rs1165091495
• gnomAD v2: 7-120428758-TGA-T
• gnomAD v4: 7-120788704-TGA-T
• MyVariant Identifiers: chr7:g.120428759_120428760del (hg19) ; chr7:g.120788705_120788706del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.120788708_120788709del , CM000669.2:g.120788708_120788709del	GRCh38
NC_000007.13:g.120428762_120428763del , CM000669.1:g.120428762_120428763del	GRCh37
NC_000007.12:g.120215998_120215999del	NCBI36
NG_023203.1:g.74418_74419del

Transcript Alleles

HGVS	Amino-acid change
ENST00000222747.8:c.804_805del MANE Select	ENSP00000222747.3:p.Gln269AlafsTer19
ENST00000222747.7:c.804_805del	ENSP00000222747.3:p.Gln269AlafsTer19
ENST00000415871.5:c.804_805del	ENSP00000397699.1:p.Gln269AlafsTer19
ENST00000450414.5:c.783_784del	ENSP00000397411.1:n.783_784del
NM_012338.3:c.804_805del	NP_036470.1:p.Gln269AlafsTer19
XM_005250239.1:c.804_805del	XP_005250296.1:p.Gln269AlafsTer19
XM_011515993.1:c.804_805del	XP_011514295.1:p.Gln269AlafsTer19
XM_011515994.1:c.804_805del	XP_011514296.1:p.Gln269AlafsTer19
XM_005250239.3:c.804_805del	XP_005250296.1:p.Gln269AlafsTer19
XM_017011913.1:c.729_730del	XP_016867402.1:p.Gln244AlafsTer19
NM_012338.4:c.804_805del MANE Select	NP_036470.1:p.Gln269AlafsTer19