Canonical Allele Identifier: CA1087626394

Gene: TAP2

Linked Data

• gnomAD v3: 6-32832434-T-TCAGCATCTGCACCCCCAAGTG
• gnomAD v4: 6-32832434-T-TCAGCATCTGCACCCCCAAGTG

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32832440_32832460dup , CM000668.2:g.32832440_32832460dup	GRCh38
NC_000006.11:g.32800217_32800237dup , CM000668.1:g.32800217_32800237dup	GRCh37
NC_000006.10:g.32908195_32908215dup	NCBI36
NG_009793.3:g.11316_11336dup
NG_009793.4:g.11316_11336dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000485701.2:n.3553_3573dup
ENST00000698440.1:c.1150_1170dup	ENSP00000513722.1:p.Leu390_Met391insHisLeuGlyValGlnMetLeu
ENST00000698441.1:c.1150_1170dup	ENSP00000513723.1:p.Leu390_Met391insHisLeuGlyValGlnMetLeu
ENST00000698448.1:c.1150_1170dup	ENSP00000513733.1:p.Leu390_Met391insHisLeuGlyValGlnMetLeu
ENST00000698449.1:c.1150_1170dup	ENSP00000513734.1:p.Leu390_Met391insHisLeuGlyValGlnMetLeu
ENST00000705716.1:c.1150_1170dup	ENSP00000516164.1:p.Leu390_Met391insHisLeuGlyValGlnMetLeu
ENST00000374897.4:c.1150_1170dup MANE Select	ENSP00000364032.3:p.Leu390_Met391insHisLeuGlyValGlnMetLeu
ENST00000652259.1:c.1150_1170dup	ENSP00000498827.1:p.Leu390_Met391insHisLeuGlyValGlnMetLeu
ENST00000374897.2:c.1150_1170dup	ENSP00000364032.2:p.Leu390_Met391insHisLeuGlyValGlnMetLeu
ENST00000374899.8:c.1150_1170dup	ENSP00000364034.4:p.Leu390_Met391insHisLeuGlyValGlnMetLeu
ENST00000452392.2:c.1150_1170dup	ENSP00000391806.2:p.Leu390_Met391insHisLeuGlyValGlnMetLeu
ENST00000485701.1:n.114_134dup
ENST00000620123.4:c.1150_1170dup	ENSP00000481712.1:p.Leu390_Met391insHisLeuGlyValGlnMetLeu
NM_001290043.1:c.1150_1170dup	NP_001276972.1:p.Leu390_Met391insHisLeuGlyValGlnMetLeu
NM_018833.2:c.1150_1170dup	NP_061313.2:p.Leu390_Met391insHisLeuGlyValGlnMetLeu
NM_001290043.2:c.1150_1170dup MANE Select	NP_001276972.1:p.Leu390_Met391insHisLeuGlyValGlnMetLeu
NM_018833.3:c.1150_1170dup	NP_061313.2:p.Leu390_Met391insHisLeuGlyValGlnMetLeu