Canonical Allele Identifier: CA8786528

Gene: AANAT

Linked Data

• dbSNP Id: rs753635704
• ExAC: 17:74465351 AG / A
• gnomAD v2: 17-74465351-AG-A
• gnomAD v4: 17-76469269-AG-A
• MyVariant Identifiers: chr17:g.74465352del (hg19) ; chr17:g.76469270del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.76469272del , CM000679.2:g.76469272del	GRCh38
NC_000017.10:g.74465354del , CM000679.1:g.74465354del	GRCh37
NC_000017.9:g.71976949del	NCBI36
NG_015976.1:g.20922del
NG_032852.1:g.37158del , LRG_532:g.37158del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392492.8:c.263del MANE Select	ENSP00000376282.2:p.Gly88AlafsTer22
ENST00000250615.7:c.398del	ENSP00000250615.2:p.Gly133AlafsTer22
ENST00000392492.7:c.263del	ENSP00000376282.2:p.Gly88AlafsTer22
ENST00000585649.1:c.377del	ENSP00000468717.1:p.Gly126AlafsTer22
ENST00000587798.1:c.*40del	ENSP00000468239.1:n.*40del
NM_001088.2:c.263del	NP_001079.1:p.Gly88AlafsTer22
NM_001166579.1:c.398del	NP_001160051.1:p.Gly133AlafsTer22
NR_110548.1:n.574del
XM_011524415.1:c.263del	XP_011522717.1:p.Gly88AlafsTer22
XM_011524416.1:c.470del	XP_011522718.1:p.Gly157AlafsTer22
XM_011524417.1:c.470del	XP_011522719.1:p.Gly157AlafsTer22
XM_011524418.1:c.470del	XP_011522720.1:p.Gly157AlafsTer22
XM_011524419.1:c.470del	XP_011522721.1:p.Gly157AlafsTer22
XM_011524420.1:c.470del	XP_011522722.1:p.Gly157AlafsTer22
XM_011524421.1:c.470del	XP_011522723.1:p.Gly157AlafsTer22
XM_011524422.1:c.353del	XP_011522724.1:p.Gly118AlafsTer22
XM_011524423.1:c.263del	XP_011522725.1:p.Gly88AlafsTer22
XM_017024259.1:c.377del	XP_016879748.1:p.Gly126AlafsTer22
NM_001088.3:c.263del MANE Select	NP_001079.1:p.Gly88AlafsTer22
NR_110548.2:n.519del
NM_001166579.2:c.398del	NP_001160051.1:p.Gly133AlafsTer22