Canonical Allele Identifier: CA658796716

Gene: TFAP2A

Linked Data

• ClinVar Variation Id: 523459
• ClinVar RCV Id: RCV000626845 ; RCV001270676
• dbSNP Id: rs1554110735
• MyVariant Identifiers: chr6:g.10398926_10398927del (hg19) ; chr6:g.10398693_10398694del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.10398694_10398695del , CM000668.2:g.10398694_10398695del	GRCh38
NC_000006.11:g.10398927_10398928del , CM000668.1:g.10398927_10398928del	GRCh37
NC_000006.10:g.10506913_10506914del	NCBI36
NG_016151.1:g.25871_25872del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379608.9:c.1019_1020del	ENSP00000368928.3:p.Lys340ArgfsTer?
ENST00000379613.10:c.1043_1044del MANE Select	ENSP00000368933.5:p.Lys348ArgfsTer?
ENST00000482890.6:c.1043_1044del	ENSP00000418541.2:p.Lys348ArgfsTer?
ENST00000488193.7:c.*534_*535del	ENSP00000419823.3:n.*534_*535del
ENST00000319516.8:c.1025_1026del	ENSP00000316516.4:p.Lys342ArgfsTer?
ENST00000379608.7:c.1019_1020del	ENSP00000368928.3:p.Lys340ArgfsTer?
ENST00000379613.7:c.1043_1044del	ENSP00000368933.3:p.Lys348ArgfsTer?
ENST00000461628.5:c.206+3798_206+3799del
ENST00000466073.5:c.895_896del	ENSP00000417495.1:p.Lys299GlufsTer?
ENST00000482890.5:c.1037_1038del	ENSP00000418541.1:p.Lys346ArgfsTer?
ENST00000488193.5:c.*534_*535del	ENSP00000419823.1:n.*534_*535del
ENST00000489805.5:c.*534_*535del	ENSP00000420568.1:n.*534_*535del
ENST00000497266.5:n.1008_1009del
NM_001032280.2:c.1019_1020del	NP_001027451.1:p.Lys340ArgfsTer?
NM_001042425.1:c.1025_1026del	NP_001035890.1:p.Lys342ArgfsTer?
NM_003220.2:c.1037_1038del	NP_003211.1:p.Lys346ArgfsTer?
XM_006715175.2:c.1172_1173del	XP_006715238.1:p.Lys391ArgfsTer?
XM_011514833.1:c.887_888del	XP_011513135.1:p.Lys296ArgfsTer?
XM_011514833.2:c.887_888del	XP_011513135.1:p.Lys296ArgfsTer?
XM_017011232.1:c.1283_1284del	XP_016866721.1:p.Lys428ArgfsTer?
NM_003220.3:c.1037_1038del	NP_003211.1:p.Lys346ArgfsTer?
NM_001032280.3:c.1019_1020del	NP_001027451.1:p.Lys340ArgfsTer?
NM_001042425.2:c.1025_1026del	NP_001035890.1:p.Lys342ArgfsTer?
NM_001372066.1:c.1043_1044del MANE Select	NP_001358995.1:p.Lys348ArgfsTer?
NM_001042425.3:c.1025_1026del	NP_001035890.1:p.Lys342ArgfsTer?