Canonical Allele Identifier: CA986412481

Gene: AANAT

Linked Data

• dbSNP Id: rs2073483768
• gnomAD v3: 17-76469282-GGCCTTCATCATC-G
• gnomAD v4: 17-76469282-GGCCTTCATCATC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.76469284_76469295del , CM000679.2:g.76469284_76469295del	GRCh38
NC_000017.10:g.74465366_74465377del , CM000679.1:g.74465366_74465377del	GRCh37
NC_000017.9:g.71976961_71976972del	NCBI36
NG_015976.1:g.20934_20945del
NG_032852.1:g.37134_37145del , LRG_532:g.37134_37145del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392492.8:c.275_286del MANE Select	ENSP00000376282.2:p.Ala92_Ile95del
ENST00000250615.7:c.410_421del	ENSP00000250615.2:p.Ala137_Ile140del
ENST00000392492.7:c.275_286del	ENSP00000376282.2:p.Ala92_Ile95del
ENST00000585649.1:c.389_400del	ENSP00000468717.1:p.Ala130_Ile133del
ENST00000587798.1:c.*52_*63del	ENSP00000468239.1:n.*52_*63del
NM_001088.2:c.275_286del	NP_001079.1:p.Ala92_Ile95del
NM_001166579.1:c.410_421del	NP_001160051.1:p.Ala137_Ile140del
NR_110548.1:n.586_597del
XM_011524415.1:c.275_286del	XP_011522717.1:p.Ala92_Ile95del
XM_011524416.1:c.482_493del	XP_011522718.1:p.Ala161_Ile164del
XM_011524417.1:c.482_493del	XP_011522719.1:p.Ala161_Ile164del
XM_011524418.1:c.482_493del	XP_011522720.1:p.Ala161_Ile164del
XM_011524419.1:c.482_493del	XP_011522721.1:p.Ala161_Ile164del
XM_011524420.1:c.482_493del	XP_011522722.1:p.Ala161_Ile164del
XM_011524421.1:c.482_493del	XP_011522723.1:p.Ala161_Ile164del
XM_011524422.1:c.365_376del	XP_011522724.1:p.Ala122_Ile125del
XM_011524423.1:c.275_286del	XP_011522725.1:p.Ala92_Ile95del
XM_017024259.1:c.389_400del	XP_016879748.1:p.Ala130_Ile133del
NM_001088.3:c.275_286del MANE Select	NP_001079.1:p.Ala92_Ile95del
NR_110548.2:n.531_542del
NM_001166579.2:c.410_421del	NP_001160051.1:p.Ala137_Ile140del