Canonical Allele Identifier: CA2276011812

Gene: AANAT

Linked Data

• dbSNP Id: rs2073489452
• gnomAD v4: 17-76469476-CCTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.76469479_76469481del , CM000679.2:g.76469479_76469481del	GRCh38
NC_000017.10:g.74465561_74465563del , CM000679.1:g.74465561_74465563del	GRCh37
NC_000017.9:g.71977156_71977158del	NCBI36
NG_015976.1:g.21129_21131del
NG_032852.1:g.36949_36951del , LRG_532:g.36949_36951del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392492.8:c.318+152_318+154del MANE Select	ENSP00000376282.2:n.318+152_318+154del
ENST00000250615.7:c.453+152_453+154del	ENSP00000250615.2:n.453+152_453+154del
ENST00000392492.7:c.318+152_318+154del	ENSP00000376282.2:n.318+152_318+154del
ENST00000585649.1:c.432+152_432+154del	ENSP00000468717.1:n.432+152_432+154del
ENST00000587798.1:c.*95+152_*95+154del	ENSP00000468239.1:n.*95+152_*95+154del
NM_001088.2:c.318+152_318+154del	NP_001079.1:n.318+152_318+154del
NM_001166579.1:c.453+152_453+154del	NP_001160051.1:n.453+152_453+154del
NR_110548.1:n.629+152_629+154del
XM_011524415.1:c.318+152_318+154del	XP_011522717.1:n.318+152_318+154del
XM_011524416.1:c.525+152_525+154del	XP_011522718.1:n.525+152_525+154del
XM_011524417.1:c.525+152_525+154del	XP_011522719.1:n.525+152_525+154del
XM_011524418.1:c.525+152_525+154del	XP_011522720.1:n.525+152_525+154del
XM_011524419.1:c.525+152_525+154del	XP_011522721.1:n.525+152_525+154del
XM_011524420.1:c.525+152_525+154del	XP_011522722.1:n.525+152_525+154del
XM_011524421.1:c.525+152_525+154del	XP_011522723.1:n.525+152_525+154del
XM_011524422.1:c.408+152_408+154del	XP_011522724.1:n.408+152_408+154del
XM_011524423.1:c.318+152_318+154del	XP_011522725.1:n.318+152_318+154del
XM_017024259.1:c.432+152_432+154del	XP_016879748.1:n.432+152_432+154del
NM_001088.3:c.318+152_318+154del MANE Select	NP_001079.1:n.318+152_318+154del
NR_110548.2:n.574+152_574+154del
NM_001166579.2:c.453+152_453+154del	NP_001160051.1:n.453+152_453+154del