Canonical Allele Identifier: CA1088909551

Gene: TFAP2B

Linked Data

• dbSNP Id: rs1770255321
• gnomAD v3: 6-50819230-CCCCCA-C
• gnomAD v4: 6-50819230-CCCCCA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.50819244_50819248del , CM000668.2:g.50819244_50819248del	GRCh38
NC_000006.11:g.50786957_50786961del , CM000668.1:g.50786957_50786961del	GRCh37
NC_000006.10:g.50894916_50894920del	NCBI36
NG_008438.1:g.5519_5523del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393655.4:c.81+272_81+276del MANE Select	ENSP00000377265.2:n.81+272_81+276del
ENST00000344788.7:c.48+272_48+276del	ENSP00000342252.3:n.48+272_48+276del
ENST00000393655.3:c.81+272_81+276del	ENSP00000377265.2:n.81+272_81+276del
NM_003221.3:c.81+272_81+276del	NP_003212.2:n.81+272_81+276del
XM_006715176.2:c.81+272_81+276del	XP_006715239.1:n.81+272_81+276del
XM_011514834.1:c.81+272_81+276del	XP_011513136.1:n.81+272_81+276del
XM_011514835.1:c.81+272_81+276del	XP_011513137.1:n.81+272_81+276del
XM_011514836.1:c.81+272_81+276del	XP_011513138.1:n.81+272_81+276del
XM_011514837.1:c.81+272_81+276del	XP_011513139.1:n.81+272_81+276del
XM_011514837.2:c.81+272_81+276del	XP_011513139.1:n.81+272_81+276del
XM_017011233.1:c.173+272_173+276del	XP_016866722.1:n.173+272_173+276del
XM_017011234.1:c.137+272_137+276del	XP_016866723.1:n.137+272_137+276del
XM_017011235.2:c.81+272_81+276del	XP_016866724.1:n.81+272_81+276del
NM_003221.4:c.81+272_81+276del MANE Select	NP_003212.2:n.81+272_81+276del