Canonical Allele Identifier: CA5497022

Gene: CHAT

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49614248_49614249del , CM000672.2:g.49614248_49614249del	GRCh38
NC_000010.10:g.50822294_50822295del , CM000672.1:g.50822294_50822295del	GRCh37
NC_000010.9:g.50492300_50492301del	NCBI36
NG_011797.1:g.10154_10155del
NG_053144.1:g.8948_8949del

Transcript Alleles

HGVS	Amino-acid Change
NM_020549.5:c.59_60del MANE Select	NP_065574.4:p.Glu20GlyfsTer?
ENST00000337653.7:c.59_60del MANE Select	ENSP00000337103.2:p.Glu20GlyfsTer?
NM_001142929.1:c.-296_-295del	NP_001136401.1:n.-296_-295del
NM_001142929.2:c.-296_-295del	NP_001136401.2:n.-296_-295del
NM_001142933.1:c.-258_-257del	NP_001136405.1:n.-258_-257del
NM_001142933.2:c.-258_-257del	NP_001136405.2:n.-258_-257del
NM_001142934.1:c.-366_-365del	NP_001136406.1:n.-366_-365del
NM_001142934.2:c.-366_-365del	NP_001136406.2:n.-366_-365del
NM_020549.4:c.59_60del	NP_065574.3:p.Glu20GlyfsTer?
NM_020984.3:c.-68-2254_-68-2253del	NP_066264.3:n.-68-2254_-68-2253del
NM_020984.4:c.-68-2254_-68-2253del	NP_066264.4:n.-68-2254_-68-2253del
NM_020985.3:c.-240-56_-240-55del	NP_066265.3:n.-240-56_-240-55del
NM_020985.4:c.-240-56_-240-55del	NP_066265.4:n.-240-56_-240-55del
NM_020986.3:c.-69+1046_-69+1047del	NP_066266.3:n.-69+1046_-69+1047del
NM_020986.4:c.-69+1046_-69+1047del	NP_066266.4:n.-69+1046_-69+1047del
ENST00000337653.6:c.59_60del	ENSP00000337103.2:p.Glu20GlyfsTer?
ENST00000339797.5:c.-68-2254_-68-2253del	ENSP00000343486.1:n.-68-2254_-68-2253del
ENST00000351556.7:c.-240-56_-240-55del	ENSP00000345878.3:n.-240-56_-240-55del
ENST00000395559.6:c.-69+1046_-69+1047del	ENSP00000378926.2:n.-69+1046_-69+1047del
ENST00000395562.2:c.-258_-257del	ENSP00000378929.2:n.-258_-257del
ENST00000460699.5:n.96-56_96-55del
ENST00000466590.6:c.59_60del	ENSP00000473443.1:p.Glu20GlyfsTer?
ENST00000481336.5:n.84+1046_84+1047del