Canonical Allele Identifier: CA2639995578

Gene: AANAT

Linked Data

• gnomAD v4: 17-76469312-GGAGA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.76469315_76469318del , CM000679.2:g.76469315_76469318del	GRCh38
NC_000017.10:g.74465397_74465400del , CM000679.1:g.74465397_74465400del	GRCh37
NC_000017.9:g.71976992_71976995del	NCBI36
NG_015976.1:g.20965_20968del
NG_032852.1:g.37112_37115del , LRG_532:g.37112_37115del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392492.8:c.306_309del MANE Select	ENSP00000376282.2:p.Glu102AspfsTer7
ENST00000250615.7:c.441_444del	ENSP00000250615.2:p.Glu147AspfsTer7
ENST00000392492.7:c.306_309del	ENSP00000376282.2:p.Glu102AspfsTer7
ENST00000585649.1:c.420_423del	ENSP00000468717.1:p.Glu140AspfsTer7
ENST00000587798.1:c.*83_*86del	ENSP00000468239.1:n.*83_*86del
NM_001088.2:c.306_309del	NP_001079.1:p.Glu102AspfsTer7
NM_001166579.1:c.441_444del	NP_001160051.1:p.Glu147AspfsTer7
NR_110548.1:n.617_620del
XM_011524415.1:c.306_309del	XP_011522717.1:p.Glu102AspfsTer7
XM_011524416.1:c.513_516del	XP_011522718.1:p.Glu171AspfsTer7
XM_011524417.1:c.513_516del	XP_011522719.1:p.Glu171AspfsTer7
XM_011524418.1:c.513_516del	XP_011522720.1:p.Glu171AspfsTer7
XM_011524419.1:c.513_516del	XP_011522721.1:p.Glu171AspfsTer7
XM_011524420.1:c.513_516del	XP_011522722.1:p.Glu171AspfsTer7
XM_011524421.1:c.513_516del	XP_011522723.1:p.Glu171AspfsTer7
XM_011524422.1:c.396_399del	XP_011522724.1:p.Glu132AspfsTer7
XM_011524423.1:c.306_309del	XP_011522725.1:p.Glu102AspfsTer7
XM_017024259.1:c.420_423del	XP_016879748.1:p.Glu140AspfsTer7
NM_001088.3:c.306_309del MANE Select	NP_001079.1:p.Glu102AspfsTer7
NR_110548.2:n.562_565del
NM_001166579.2:c.441_444del	NP_001160051.1:p.Glu147AspfsTer7