Canonical Allele Identifier: CA775172219

Gene: AANAT

Linked Data

• dbSNP Id: rs1457683625
• gnomAD v3: 17-76467243-GTACT-G
• gnomAD v4: 17-76467243-GTACT-G
• MyVariant Identifiers: chr17:g.74463326_74463329del (hg19) ; chr17:g.76467244_76467247del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.76467246_76467249del , CM000679.2:g.76467246_76467249del	GRCh38
NC_000017.10:g.74463328_74463331del , CM000679.1:g.74463328_74463331del	GRCh37
NC_000017.9:g.71974923_71974926del	NCBI36
NG_015976.1:g.18896_18899del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000250615.7:c.60+1014_60+1017del	ENSP00000250615.2:n.60+1014_60+1017del
NM_001166579.1:c.60+1014_60+1017del	NP_001160051.1:n.60+1014_60+1017del
XM_011524415.1:c.-75-1426_-75-1423del	XP_011522717.1:n.-75-1426_-75-1423del
XM_011524416.1:c.133-1426_133-1423del	XP_011522718.1:n.133-1426_133-1423del
XM_011524417.1:c.133-1426_133-1423del	XP_011522719.1:n.133-1426_133-1423del
XM_011524418.1:c.133-1426_133-1423del	XP_011522720.1:n.133-1426_133-1423del
XM_011524419.1:c.133-1426_133-1423del	XP_011522721.1:n.133-1426_133-1423del
XM_011524420.1:c.133-1426_133-1423del	XP_011522722.1:n.133-1426_133-1423del
XM_011524421.1:c.133-1426_133-1423del	XP_011522723.1:n.133-1426_133-1423del
XM_011524422.1:c.16-1426_16-1423del	XP_011522724.1:n.16-1426_16-1423del
XM_011524423.1:c.-76+935_-76+938del	XP_011522725.1:n.-76+935_-76+938del
XM_017024259.1:c.-1387_-1384del	XP_016879748.1:n.-1387_-1384del
NM_001166579.2:c.60+1014_60+1017del	NP_001160051.1:n.60+1014_60+1017del