Canonical Allele Identifier: CA565486578

Gene: TFAP2A TFAP2A-AS2

Linked Data

• dbSNP Id: rs1228645049
• gnomAD v2: 6-10404889-TCAC-T
• MyVariant Identifiers: chr6:g.10404890_10404892del (hg19) ; chr6:g.10404657_10404659del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.10404660_10404662del , CM000668.2:g.10404660_10404662del	GRCh38
NC_000006.11:g.10404893_10404895del , CM000668.1:g.10404893_10404895del	GRCh37
NC_000006.10:g.10512879_10512881del	NCBI36
NG_016151.1:g.19906_19908del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379608.9:c.595_597del (TFAP2A)	ENSP00000368928.3:p.Val199del
ENST00000379613.10:c.619_621del (TFAP2A) MANE Select	ENSP00000368933.5:p.Val207del
ENST00000482890.6:c.619_621del (TFAP2A)	ENSP00000418541.2:p.Val207del
ENST00000488193.7:c.*110_*112del (TFAP2A)	ENSP00000419823.3:n.*110_*112del
ENST00000498450.3:c.184_186del (TFAP2A)	ENSP00000419961.3:p.Val62del
ENST00000319516.8:c.601_603del (TFAP2A)	ENSP00000316516.4:p.Val201del
ENST00000379608.7:c.595_597del (TFAP2A)	ENSP00000368928.3:p.Val199del
ENST00000379613.7:c.619_621del (TFAP2A)	ENSP00000368933.3:p.Val207del
ENST00000466073.5:c.613_615del (TFAP2A)	ENSP00000417495.1:p.Val205del
ENST00000475264.5:c.327_329del (TFAP2A)
ENST00000478375.5:n.613_615del (TFAP2A)
ENST00000482890.5:c.613_615del (TFAP2A)	ENSP00000418541.1:p.Val205del
ENST00000488193.5:c.*110_*112del (TFAP2A)	ENSP00000419823.1:n.*110_*112del
ENST00000489805.5:c.*110_*112del (TFAP2A)	ENSP00000420568.1:n.*110_*112del
ENST00000490875.5:n.855_857del (TFAP2A)
ENST00000497266.5:n.584_586del (TFAP2A)
ENST00000498450.1:c.184_186del (TFAP2A)	ENSP00000419961.1:p.Val62del
NM_001032280.2:c.595_597del (TFAP2A)	NP_001027451.1:p.Val199del
NM_001042425.1:c.601_603del (TFAP2A)	NP_001035890.1:p.Val201del
NM_003220.2:c.613_615del (TFAP2A)	NP_003211.1:p.Val205del
XM_006715175.2:c.748_750del (TFAP2A)	XP_006715238.1:p.Val250del
XM_011514833.1:c.463_465del (TFAP2A)	XP_011513135.1:p.Val155del
NR_145448.1:n.159_161del (TFAP2A-AS2)
XM_011514833.2:c.463_465del (TFAP2A)	XP_011513135.1:p.Val155del
XM_017011232.1:c.859_861del (TFAP2A)	XP_016866721.1:p.Val287del
NM_003220.3:c.613_615del (TFAP2A)	NP_003211.1:p.Val205del
NM_001032280.3:c.595_597del (TFAP2A)	NP_001027451.1:p.Val199del
NM_001042425.2:c.601_603del (TFAP2A)	NP_001035890.1:p.Val201del
NM_001372066.1:c.619_621del (TFAP2A) MANE Select	NP_001358995.1:p.Val207del
NM_001042425.3:c.601_603del (TFAP2A)	NP_001035890.1:p.Val201del