Canonical Allele Identifier: CA593375547

Gene: CHAT

Linked Data

• dbSNP Id: rs1292776064
• gnomAD v2: 10-50863640-CTT-C
• gnomAD v3: 10-49655594-CTT-C
• gnomAD v4: 10-49655594-CTT-C
• MyVariant Identifiers: chr10:g.50863641_50863642del (hg19) ; chr10:g.49655595_49655596del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49655595_49655596del , CM000672.2:g.49655595_49655596del	GRCh38
NC_000010.10:g.50863641_50863642del , CM000672.1:g.50863641_50863642del	GRCh37
NC_000010.9:g.50533647_50533648del	NCBI36
NG_011797.1:g.51501_51502del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337653.7:c.1839+147_1839+148del MANE Select	ENSP00000337103.2:n.1839+147_1839+148del
ENST00000638282.1:c.*676+147_*676+148del	ENSP00000492646.1:n.*676+147_*676+148del
ENST00000638683.1:n.476+147_476+148del
ENST00000640822.1:c.702+147_702+148del	ENSP00000491328.1:n.702+147_702+148del
ENST00000337653.6:c.1839+147_1839+148del	ENSP00000337103.2:n.1839+147_1839+148del
ENST00000339797.5:c.1485+147_1485+148del	ENSP00000343486.1:n.1485+147_1485+148del
ENST00000351556.7:c.1485+147_1485+148del	ENSP00000345878.3:n.1485+147_1485+148del
ENST00000395559.6:c.1485+147_1485+148del	ENSP00000378926.2:n.1485+147_1485+148del
ENST00000395562.2:c.1593+147_1593+148del	ENSP00000378929.2:n.1593+147_1593+148del
ENST00000466590.6:c.*1570+147_*1570+148del	ENSP00000473443.1:n.*1570+147_*1570+148del
NM_001142929.1:c.1485+147_1485+148del	NP_001136401.1:n.1485+147_1485+148del
NM_001142933.1:c.1593+147_1593+148del	NP_001136405.1:n.1593+147_1593+148del
NM_001142934.1:c.1485+147_1485+148del	NP_001136406.1:n.1485+147_1485+148del
NM_020549.4:c.1839+147_1839+148del	NP_065574.3:n.1839+147_1839+148del
NM_020984.3:c.1485+147_1485+148del	NP_066264.3:n.1485+147_1485+148del
NM_020985.3:c.1485+147_1485+148del	NP_066265.3:n.1485+147_1485+148del
NM_020986.3:c.1485+147_1485+148del	NP_066266.3:n.1485+147_1485+148del
NM_001142929.2:c.1485+147_1485+148del	NP_001136401.2:n.1485+147_1485+148del
NM_001142933.2:c.1593+147_1593+148del	NP_001136405.2:n.1593+147_1593+148del
NM_001142934.2:c.1485+147_1485+148del	NP_001136406.2:n.1485+147_1485+148del
NM_020549.5:c.1839+147_1839+148del MANE Select	NP_065574.4:n.1839+147_1839+148del
NM_020984.4:c.1485+147_1485+148del	NP_066264.4:n.1485+147_1485+148del
NM_020985.4:c.1485+147_1485+148del	NP_066265.4:n.1485+147_1485+148del
NM_020986.4:c.1485+147_1485+148del	NP_066266.4:n.1485+147_1485+148del