Canonical Allele Identifier: CA2639996429

Gene: AANAT

Linked Data

• gnomAD v4: 17-76469688-T-TG

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.76469693dup , CM000679.2:g.76469693dup	GRCh38
NC_000017.10:g.74465775dup , CM000679.1:g.74465775dup	GRCh37
NC_000017.9:g.71977370dup	NCBI36
NG_015976.1:g.21343dup
NG_032852.1:g.36739dup , LRG_532:g.36739dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392492.8:c.347dup MANE Select	ENSP00000376282.2:p.His117ProfsTer?
ENST00000250615.7:c.482dup	ENSP00000250615.2:p.His162ProfsTer?
ENST00000392492.7:c.347dup	ENSP00000376282.2:p.His117ProfsTer?
ENST00000587798.1:c.*124dup	ENSP00000468239.1:n.*124dup
NM_001088.2:c.347dup	NP_001079.1:p.His117ProfsTer?
NM_001166579.1:c.482dup	NP_001160051.1:p.His162ProfsTer?
NR_110548.1:n.658dup
XM_011524415.1:c.347dup	XP_011522717.1:p.His117ProfsTer?
XM_011524416.1:c.554dup	XP_011522718.1:p.His186ProfsTer?
XM_011524417.1:c.554dup	XP_011522719.1:p.His186ProfsTer?
XM_011524418.1:c.554dup	XP_011522720.1:p.His186ProfsTer?
XM_011524419.1:c.554dup	XP_011522721.1:p.His186ProfsTer?
XM_011524420.1:c.554dup	XP_011522722.1:p.His186ProfsTer?
XM_011524421.1:c.554dup	XP_011522723.1:p.His186ProfsTer?
XM_011524422.1:c.437dup	XP_011522724.1:p.His147ProfsTer?
XM_011524423.1:c.347dup	XP_011522725.1:p.His117ProfsTer?
XM_017024259.1:c.461dup	XP_016879748.1:p.His155ProfsTer?
NM_001088.3:c.347dup MANE Select	NP_001079.1:p.His117ProfsTer?
NR_110548.2:n.603dup
NM_001166579.2:c.482dup	NP_001160051.1:p.His162ProfsTer?