Canonical Allele Identifier: CA567278179

Gene: TFAP2B

Linked Data

• gnomAD v2: 6-50786957-C-CCCCCCTTTTA
• gnomAD v3: 6-50819244-C-CCCCCCTTTTA
• gnomAD v4: 6-50819244-C-CCCCCCTTTTA
• MyVariant Identifiers: chr6:g.50786957_50786958insCCCCCTTTTA (hg19) ; chr6:g.50819244_50819245insCCCCCTTTTA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.50819244_50819245insCCCCCTTTTA , CM000668.2:g.50819244_50819245insCCCCCTTTTA	GRCh38
NC_000006.11:g.50786957_50786958insCCCCCTTTTA , CM000668.1:g.50786957_50786958insCCCCCTTTTA	GRCh37
NC_000006.10:g.50894916_50894917insCCCCCTTTTA	NCBI36
NG_008438.1:g.5519_5520insCCCCCTTTTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393655.4:c.81+272_81+273insCCCCCTTTTA MANE Select	ENSP00000377265.2:n.81+272_81+273insCCCCCTTTTA
ENST00000344788.7:c.48+272_48+273insCCCCCTTTTA	ENSP00000342252.3:n.48+272_48+273insCCCCCTTTTA
ENST00000393655.3:c.81+272_81+273insCCCCCTTTTA	ENSP00000377265.2:n.81+272_81+273insCCCCCTTTTA
NM_003221.3:c.81+272_81+273insCCCCCTTTTA	NP_003212.2:n.81+272_81+273insCCCCCTTTTA
XM_006715176.2:c.81+272_81+273insCCCCCTTTTA	XP_006715239.1:n.81+272_81+273insCCCCCTTTTA
XM_011514834.1:c.81+272_81+273insCCCCCTTTTA	XP_011513136.1:n.81+272_81+273insCCCCCTTTTA
XM_011514835.1:c.81+272_81+273insCCCCCTTTTA	XP_011513137.1:n.81+272_81+273insCCCCCTTTTA
XM_011514836.1:c.81+272_81+273insCCCCCTTTTA	XP_011513138.1:n.81+272_81+273insCCCCCTTTTA
XM_011514837.1:c.81+272_81+273insCCCCCTTTTA	XP_011513139.1:n.81+272_81+273insCCCCCTTTTA
XM_011514837.2:c.81+272_81+273insCCCCCTTTTA	XP_011513139.1:n.81+272_81+273insCCCCCTTTTA
XM_017011233.1:c.173+272_173+273insCCCCCTTTTA	XP_016866722.1:n.173+272_173+273insCCCCCTTTTA
XM_017011234.1:c.137+272_137+273insCCCCCTTTTA	XP_016866723.1:n.137+272_137+273insCCCCCTTTTA
XM_017011235.2:c.81+272_81+273insCCCCCTTTTA	XP_016866724.1:n.81+272_81+273insCCCCCTTTTA
NM_003221.4:c.81+272_81+273insCCCCCTTTTA MANE Select	NP_003212.2:n.81+272_81+273insCCCCCTTTTA