Canonical Allele Identifier: CA2513019085

Gene: AANAT

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.76469274del , CM000679.2:g.76469274del	GRCh38
NC_000017.10:g.74465356del , CM000679.1:g.74465356del	GRCh37
NC_000017.9:g.71976951del	NCBI36
NG_015976.1:g.20924del
NG_032852.1:g.37154del , LRG_532:g.37154del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392492.8:c.265del MANE Select	ENSP00000376282.2:p.Cys89AlafsTer21
ENST00000250615.7:c.400del	ENSP00000250615.2:p.Cys134AlafsTer21
ENST00000392492.7:c.265del	ENSP00000376282.2:p.Cys89AlafsTer21
ENST00000585649.1:c.379del	ENSP00000468717.1:p.Cys127AlafsTer21
ENST00000587798.1:c.*42del	ENSP00000468239.1:n.*42del
NM_001088.2:c.265del	NP_001079.1:p.Cys89AlafsTer21
NM_001166579.1:c.400del	NP_001160051.1:p.Cys134AlafsTer21
NR_110548.1:n.576del
XM_011524415.1:c.265del	XP_011522717.1:p.Cys89AlafsTer21
XM_011524416.1:c.472del	XP_011522718.1:p.Cys158AlafsTer21
XM_011524417.1:c.472del	XP_011522719.1:p.Cys158AlafsTer21
XM_011524418.1:c.472del	XP_011522720.1:p.Cys158AlafsTer21
XM_011524419.1:c.472del	XP_011522721.1:p.Cys158AlafsTer21
XM_011524420.1:c.472del	XP_011522722.1:p.Cys158AlafsTer21
XM_011524421.1:c.472del	XP_011522723.1:p.Cys158AlafsTer21
XM_011524422.1:c.355del	XP_011522724.1:p.Cys119AlafsTer21
XM_011524423.1:c.265del	XP_011522725.1:p.Cys89AlafsTer21
XM_017024259.1:c.379del	XP_016879748.1:p.Cys127AlafsTer21
NM_001088.3:c.265del MANE Select	NP_001079.1:p.Cys89AlafsTer21
NR_110548.2:n.521del
NM_001166579.2:c.400del	NP_001160051.1:p.Cys134AlafsTer21