Canonical Allele Identifier: CA501885978

Gene: AANAT

Linked Data

• gnomAD v4: 17-76469254-TG-T
• MyVariant Identifiers: chr17:g.74465337del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.76469257del , CM000679.2:g.76469257del	GRCh38
NC_000017.10:g.74465339del , CM000679.1:g.74465339del	GRCh37
NC_000017.9:g.71976934del	NCBI36
NG_015976.1:g.20907del
NG_032852.1:g.37173del , LRG_532:g.37173del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392492.8:c.248del MANE Select	ENSP00000376282.2:p.Gly83AlafsTer27
ENST00000250615.7:c.383del	ENSP00000250615.2:p.Gly128AlafsTer27
ENST00000392492.7:c.248del	ENSP00000376282.2:p.Gly83AlafsTer27
ENST00000585649.1:c.362del	ENSP00000468717.1:p.Gly121AlafsTer27
ENST00000587798.1:c.*25del	ENSP00000468239.1:n.*25del
NM_001088.2:c.248del	NP_001079.1:p.Gly83AlafsTer27
NM_001166579.1:c.383del	NP_001160051.1:p.Gly128AlafsTer27
NR_110548.1:n.559del
XM_011524415.1:c.248del	XP_011522717.1:p.Gly83AlafsTer27
XM_011524416.1:c.455del	XP_011522718.1:p.Gly152AlafsTer27
XM_011524417.1:c.455del	XP_011522719.1:p.Gly152AlafsTer27
XM_011524418.1:c.455del	XP_011522720.1:p.Gly152AlafsTer27
XM_011524419.1:c.455del	XP_011522721.1:p.Gly152AlafsTer27
XM_011524420.1:c.455del	XP_011522722.1:p.Gly152AlafsTer27
XM_011524421.1:c.455del	XP_011522723.1:p.Gly152AlafsTer27
XM_011524422.1:c.338del	XP_011522724.1:p.Gly113AlafsTer27
XM_011524423.1:c.248del	XP_011522725.1:p.Gly83AlafsTer27
XM_017024259.1:c.362del	XP_016879748.1:p.Gly121AlafsTer27
NM_001088.3:c.248del MANE Select	NP_001079.1:p.Gly83AlafsTer27
NR_110548.2:n.504del
NM_001166579.2:c.383del	NP_001160051.1:p.Gly128AlafsTer27