Canonical Allele Identifier: CA1908834760

Gene: CHAT

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49655348_49655349delinsCT , CM000672.2:g.49655348_49655349delinsCT	GRCh38
NC_000010.10:g.50863394_50863395delinsCT , CM000672.1:g.50863394_50863395delinsCT	GRCh37
NC_000010.9:g.50533400_50533401delinsCT	NCBI36
NG_011797.1:g.51254_51255delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337653.7:c.1777-38_1777-37delinsCT MANE Select	ENSP00000337103.2:n.1777-38_1777-37delinsCT
ENST00000638282.1:c.*614-38_*614-37delinsCT	ENSP00000492646.1:n.*614-38_*614-37delinsCT
ENST00000638683.1:n.414-38_414-37delinsCT
ENST00000640822.1:c.640-38_640-37delinsCT	ENSP00000491328.1:n.640-38_640-37delinsCT
ENST00000337653.6:c.1777-38_1777-37delinsCT	ENSP00000337103.2:n.1777-38_1777-37delinsCT
ENST00000339797.5:c.1423-38_1423-37delinsCT	ENSP00000343486.1:n.1423-38_1423-37delinsCT
ENST00000351556.7:c.1423-38_1423-37delinsCT	ENSP00000345878.3:n.1423-38_1423-37delinsCT
ENST00000395559.6:c.1423-38_1423-37delinsCT	ENSP00000378926.2:n.1423-38_1423-37delinsCT
ENST00000395562.2:c.1531-38_1531-37delinsCT	ENSP00000378929.2:n.1531-38_1531-37delinsCT
ENST00000466590.6:c.*1508-38_*1508-37delinsCT	ENSP00000473443.1:n.*1508-38_*1508-37delinsCT
NM_001142929.1:c.1423-38_1423-37delinsCT	NP_001136401.1:n.1423-38_1423-37delinsCT
NM_001142933.1:c.1531-38_1531-37delinsCT	NP_001136405.1:n.1531-38_1531-37delinsCT
NM_001142934.1:c.1423-38_1423-37delinsCT	NP_001136406.1:n.1423-38_1423-37delinsCT
NM_020549.4:c.1777-38_1777-37delinsCT	NP_065574.3:n.1777-38_1777-37delinsCT
NM_020984.3:c.1423-38_1423-37delinsCT	NP_066264.3:n.1423-38_1423-37delinsCT
NM_020985.3:c.1423-38_1423-37delinsCT	NP_066265.3:n.1423-38_1423-37delinsCT
NM_020986.3:c.1423-38_1423-37delinsCT	NP_066266.3:n.1423-38_1423-37delinsCT
NM_001142929.2:c.1423-38_1423-37delinsCT	NP_001136401.2:n.1423-38_1423-37delinsCT
NM_001142933.2:c.1531-38_1531-37delinsCT	NP_001136405.2:n.1531-38_1531-37delinsCT
NM_001142934.2:c.1423-38_1423-37delinsCT	NP_001136406.2:n.1423-38_1423-37delinsCT
NM_020549.5:c.1777-38_1777-37delinsCT MANE Select	NP_065574.4:n.1777-38_1777-37delinsCT
NM_020984.4:c.1423-38_1423-37delinsCT	NP_066264.4:n.1423-38_1423-37delinsCT
NM_020985.4:c.1423-38_1423-37delinsCT	NP_066265.4:n.1423-38_1423-37delinsCT
NM_020986.4:c.1423-38_1423-37delinsCT	NP_066266.4:n.1423-38_1423-37delinsCT