Canonical Allele Identifier: CA2639996609

Gene: AANAT

Linked Data

• gnomAD v4: 17-76469733-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.76469735del , CM000679.2:g.76469735del	GRCh38
NC_000017.10:g.74465817del , CM000679.1:g.74465817del	GRCh37
NC_000017.9:g.71977412del	NCBI36
NG_015976.1:g.21385del
NG_032852.1:g.36694del , LRG_532:g.36694del

Transcript Alleles

HGVS	Amino-acid change
ENST00000392492.8:c.389del MANE Select	ENSP00000376282.2:p.Phe130SerfsTer?
ENST00000250615.7:c.524del	ENSP00000250615.2:p.Phe175SerfsTer?
ENST00000392492.7:c.389del	ENSP00000376282.2:p.Phe130SerfsTer?
ENST00000587798.1:c.*166del	ENSP00000468239.1:n.*166del
NM_001088.2:c.389del	NP_001079.1:p.Phe130SerfsTer?
NM_001166579.1:c.524del	NP_001160051.1:p.Phe175SerfsTer?
NR_110548.1:n.700del
XM_011524415.1:c.389del	XP_011522717.1:p.Phe130SerfsTer?
XM_011524416.1:c.596del	XP_011522718.1:p.Phe199SerfsTer?
XM_011524417.1:c.596del	XP_011522719.1:p.Phe199SerfsTer?
XM_011524418.1:c.596del	XP_011522720.1:p.Phe199SerfsTer?
XM_011524419.1:c.596del	XP_011522721.1:p.Phe199SerfsTer?
XM_011524420.1:c.596del	XP_011522722.1:p.Phe199SerfsTer?
XM_011524421.1:c.596del	XP_011522723.1:p.Phe199SerfsTer?
XM_011524422.1:c.479del	XP_011522724.1:p.Phe160SerfsTer?
XM_011524423.1:c.389del	XP_011522725.1:p.Phe130SerfsTer?
XM_017024259.1:c.503del	XP_016879748.1:p.Phe168SerfsTer?
NM_001088.3:c.389del MANE Select	NP_001079.1:p.Phe130SerfsTer?
NR_110548.2:n.645del
NM_001166579.2:c.524del	NP_001160051.1:p.Phe175SerfsTer?