Canonical Allele Identifier: CA775161377

Gene: AANAT

Linked Data

• dbSNP Id: rs1377229966
• gnomAD v4: 17-76469312-GGA-G
• MyVariant Identifiers: chr17:g.74465395_74465396del (hg19) ; chr17:g.76469313_76469314del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.76469317_76469318del , CM000679.2:g.76469317_76469318del	GRCh38
NC_000017.10:g.74465399_74465400del , CM000679.1:g.74465399_74465400del	GRCh37
NC_000017.9:g.71976994_71976995del	NCBI36
NG_015976.1:g.20967_20968del
NG_032852.1:g.37114_37115del , LRG_532:g.37114_37115del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392492.8:c.308_309del MANE Select	ENSP00000376282.2:p.Arg103ThrfsTer?
ENST00000250615.7:c.443_444del	ENSP00000250615.2:p.Arg148ThrfsTer?
ENST00000392492.7:c.308_309del	ENSP00000376282.2:p.Arg103ThrfsTer?
ENST00000585649.1:c.422_423del	ENSP00000468717.1:p.Arg141ThrfsTer?
ENST00000587798.1:c.*85_*86del	ENSP00000468239.1:n.*85_*86del
NM_001088.2:c.308_309del	NP_001079.1:p.Arg103ThrfsTer?
NM_001166579.1:c.443_444del	NP_001160051.1:p.Arg148ThrfsTer?
NR_110548.1:n.619_620del
XM_011524415.1:c.308_309del	XP_011522717.1:p.Arg103ThrfsTer?
XM_011524416.1:c.515_516del	XP_011522718.1:p.Arg172ThrfsTer?
XM_011524417.1:c.515_516del	XP_011522719.1:p.Arg172ThrfsTer?
XM_011524418.1:c.515_516del	XP_011522720.1:p.Arg172ThrfsTer?
XM_011524419.1:c.515_516del	XP_011522721.1:p.Arg172ThrfsTer?
XM_011524420.1:c.515_516del	XP_011522722.1:p.Arg172ThrfsTer?
XM_011524421.1:c.515_516del	XP_011522723.1:p.Arg172ThrfsTer?
XM_011524422.1:c.398_399del	XP_011522724.1:p.Arg133ThrfsTer?
XM_011524423.1:c.308_309del	XP_011522725.1:p.Arg103ThrfsTer?
XM_017024259.1:c.422_423del	XP_016879748.1:p.Arg141ThrfsTer?
NM_001088.3:c.308_309del MANE Select	NP_001079.1:p.Arg103ThrfsTer?
NR_110548.2:n.564_565del
NM_001166579.2:c.443_444del	NP_001160051.1:p.Arg148ThrfsTer?