Canonical Allele Identifier: CA2639996004

Gene: AANAT

Linked Data

• gnomAD v4: 17-76469469-A-AAGGTCTTGCTCTGGGAG

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.76469469_76469470insAGGTCTTGCTCTGGGAG , CM000679.2:g.76469469_76469470insAGGTCTTGCTCTGGGAG	GRCh38
NC_000017.10:g.74465551_74465552insAGGTCTTGCTCTGGGAG , CM000679.1:g.74465551_74465552insAGGTCTTGCTCTGGGAG	GRCh37
NC_000017.9:g.71977146_71977147insAGGTCTTGCTCTGGGAG	NCBI36
NG_015976.1:g.21119_21120insAGGTCTTGCTCTGGGAG
NG_032852.1:g.36958_36959insCTCCCAGAGCAAGACCT , LRG_532:g.36958_36959insCTCCCAGAGCAAGACCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392492.8:c.318+142_318+143insAGGTCTTGCTCTGGGAG MANE Select	ENSP00000376282.2:n.318+142_318+143insAGGTCTTGCTCTGGGAG
ENST00000250615.7:c.453+142_453+143insAGGTCTTGCTCTGGGAG	ENSP00000250615.2:n.453+142_453+143insAGGTCTTGCTCTGGGAG
ENST00000392492.7:c.318+142_318+143insAGGTCTTGCTCTGGGAG	ENSP00000376282.2:n.318+142_318+143insAGGTCTTGCTCTGGGAG
ENST00000585649.1:c.432+142_432+143insAGGTCTTGCTCTGGGAG	ENSP00000468717.1:n.432+142_432+143insAGGTCTTGCTCTGGGAG
ENST00000587798.1:c.*95+142_*95+143insAGGTCTTGCTCTGGGAG	ENSP00000468239.1:n.*95+142_*95+143insAGGTCTTGCTCTGGGAG
NM_001088.2:c.318+142_318+143insAGGTCTTGCTCTGGGAG	NP_001079.1:n.318+142_318+143insAGGTCTTGCTCTGGGAG
NM_001166579.1:c.453+142_453+143insAGGTCTTGCTCTGGGAG	NP_001160051.1:n.453+142_453+143insAGGTCTTGCTCTGGGAG
NR_110548.1:n.629+142_629+143insAGGTCTTGCTCTGGGAG
XM_011524415.1:c.318+142_318+143insAGGTCTTGCTCTGGGAG	XP_011522717.1:n.318+142_318+143insAGGTCTTGCTCTGGGAG
XM_011524416.1:c.525+142_525+143insAGGTCTTGCTCTGGGAG	XP_011522718.1:n.525+142_525+143insAGGTCTTGCTCTGGGAG
XM_011524417.1:c.525+142_525+143insAGGTCTTGCTCTGGGAG	XP_011522719.1:n.525+142_525+143insAGGTCTTGCTCTGGGAG
XM_011524418.1:c.525+142_525+143insAGGTCTTGCTCTGGGAG	XP_011522720.1:n.525+142_525+143insAGGTCTTGCTCTGGGAG
XM_011524419.1:c.525+142_525+143insAGGTCTTGCTCTGGGAG	XP_011522721.1:n.525+142_525+143insAGGTCTTGCTCTGGGAG
XM_011524420.1:c.525+142_525+143insAGGTCTTGCTCTGGGAG	XP_011522722.1:n.525+142_525+143insAGGTCTTGCTCTGGGAG
XM_011524421.1:c.525+142_525+143insAGGTCTTGCTCTGGGAG	XP_011522723.1:n.525+142_525+143insAGGTCTTGCTCTGGGAG
XM_011524422.1:c.408+142_408+143insAGGTCTTGCTCTGGGAG	XP_011522724.1:n.408+142_408+143insAGGTCTTGCTCTGGGAG
XM_011524423.1:c.318+142_318+143insAGGTCTTGCTCTGGGAG	XP_011522725.1:n.318+142_318+143insAGGTCTTGCTCTGGGAG
XM_017024259.1:c.432+142_432+143insAGGTCTTGCTCTGGGAG	XP_016879748.1:n.432+142_432+143insAGGTCTTGCTCTGGGAG
NM_001088.3:c.318+142_318+143insAGGTCTTGCTCTGGGAG MANE Select	NP_001079.1:n.318+142_318+143insAGGTCTTGCTCTGGGAG
NR_110548.2:n.574+142_574+143insAGGTCTTGCTCTGGGAG
NM_001166579.2:c.453+142_453+143insAGGTCTTGCTCTGGGAG	NP_001160051.1:n.453+142_453+143insAGGTCTTGCTCTGGGAG