Canonical Allele Identifier: CA2609118418

Gene: CHAT

Linked Data

• gnomAD v4: 10-49655222-A-AAGGCTGCTGTGCCAGTAAGTCCCGCCCCACCCCACGGCCACAGGAAACCAGTG

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49655234_49655286dup , CM000672.2:g.49655234_49655286dup	GRCh38
NC_000010.10:g.50863280_50863332dup , CM000672.1:g.50863280_50863332dup	GRCh37
NC_000010.9:g.50533286_50533338dup	NCBI36
NG_011797.1:g.51140_51192dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337653.7:c.1774_1776+50dup
ENST00000638282.1:c.*611_*613+50dup
ENST00000638683.1:n.411_413+50dup
ENST00000640822.1:c.637_639+50dup
ENST00000337653.6:c.1774_1776+50dup
ENST00000339797.5:c.1420_1422+50dup
ENST00000351556.7:c.1420_1422+50dup
ENST00000395559.6:c.1420_1422+50dup
ENST00000395562.2:c.1528_1530+50dup
ENST00000466590.6:c.*1505_*1507+50dup
NM_001142929.1:c.1420_1422+50dup
NM_001142933.1:c.1528_1530+50dup
NM_001142934.1:c.1420_1422+50dup
NM_020549.4:c.1774_1776+50dup
NM_020984.3:c.1420_1422+50dup
NM_020985.3:c.1420_1422+50dup
NM_020986.3:c.1420_1422+50dup
NM_001142929.2:c.1420_1422+50dup
NM_001142933.2:c.1528_1530+50dup
NM_001142934.2:c.1420_1422+50dup
NM_020549.5:c.1774_1776+50dup
NM_020984.4:c.1420_1422+50dup
NM_020985.4:c.1420_1422+50dup
NM_020986.4:c.1420_1422+50dup