Canonical Allele Identifier: CA134045866
Community Standard Title: NM_001372066.1(TFAP2A):c.889+317_889+321del
Gene: TFAP2A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.10402174_10402178del , CM000668.2:g.10402174_10402178del GRCh38
NC_000006.11:g.10402407_10402411del , CM000668.1:g.10402407_10402411del GRCh37
NC_000006.10:g.10510393_10510397del NCBI36
NG_016151.1:g.22390_22394del

Transcript Alleles

HGVS Amino-acid Change
NM_001372066.1:c.889+317_889+321del MANE Select NP_001358995.1:n.889+317_889+321del
ENST00000379613.10:c.889+317_889+321del MANE Select ENSP00000368933.5:n.889+317_889+321del
NM_001032280.2:c.865+317_865+321del NP_001027451.1:n.865+317_865+321del
NM_001032280.3:c.865+317_865+321del NP_001027451.1:n.865+317_865+321del
NM_001042425.1:c.871+317_871+321del NP_001035890.1:n.871+317_871+321del
NM_001042425.2:c.871+317_871+321del NP_001035890.1:n.871+317_871+321del
NM_001042425.3:c.871+317_871+321del NP_001035890.1:n.871+317_871+321del
NM_003220.2:c.883+317_883+321del NP_003211.1:n.883+317_883+321del
NM_003220.3:c.883+317_883+321del NP_003211.1:n.883+317_883+321del
ENST00000319516.8:c.871+317_871+321del ENSP00000316516.4:n.871+317_871+321del
ENST00000379608.7:c.865+317_865+321del ENSP00000368928.3:n.865+317_865+321del
ENST00000379608.9:c.865+317_865+321del ENSP00000368928.3:n.865+317_865+321del
ENST00000379613.7:c.889+317_889+321del ENSP00000368933.3:n.889+317_889+321del
ENST00000461628.5:c.206+317_206+321del
ENST00000466073.5:c.883+317_883+321del ENSP00000417495.1:n.883+317_883+321del
ENST00000475264.5:c.597+317_597+321del
ENST00000478375.5:n.1200_1204del
ENST00000482890.5:c.883+317_883+321del ENSP00000418541.1:n.883+317_883+321del
ENST00000482890.6:c.889+317_889+321del ENSP00000418541.2:n.889+317_889+321del
ENST00000488193.5:c.*380+317_*380+321del ENSP00000419823.1:n.*380+317_*380+321del
ENST00000488193.7:c.*380+317_*380+321del ENSP00000419823.3:n.*380+317_*380+321del
ENST00000489805.5:c.*380+317_*380+321del ENSP00000420568.1:n.*380+317_*380+321del
ENST00000497266.5:n.854+317_854+321del
XM_006715175.2:c.1018+317_1018+321del XP_006715238.1:n.1018+317_1018+321del
XM_011514833.1:c.733+317_733+321del XP_011513135.1:n.733+317_733+321del
XM_011514833.2:c.733+317_733+321del XP_011513135.1:n.733+317_733+321del
XM_017011232.1:c.1129+317_1129+321del XP_016866721.1:n.1129+317_1129+321del