Canonical Allele Identifier: CA593780885

Gene: CHAT

Linked Data

• ClinVar Variation Id: 2957110
• ClinVar RCV Id: RCV003818797
• dbSNP Id: rs1361453345
• gnomAD v2: 10-50863412-CCT-C
• gnomAD v4: 10-49655366-CCT-C
• MyVariant Identifiers: chr10:g.50863413_50863414del (hg19) ; chr10:g.49655367_49655368del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49655369_49655370del , CM000672.2:g.49655369_49655370del	GRCh38
NC_000010.10:g.50863415_50863416del , CM000672.1:g.50863415_50863416del	GRCh37
NC_000010.9:g.50533421_50533422del	NCBI36
NG_011797.1:g.51275_51276del

Transcript Alleles

HGVS	Amino-acid change
ENST00000337653.7:c.1777-17_1777-16del MANE Select	ENSP00000337103.2:n.1777-17_1777-16del
ENST00000638282.1:c.*614-17_*614-16del	ENSP00000492646.1:n.*614-17_*614-16del
ENST00000638683.1:n.414-17_414-16del
ENST00000640822.1:c.640-17_640-16del	ENSP00000491328.1:n.640-17_640-16del
ENST00000337653.6:c.1777-17_1777-16del	ENSP00000337103.2:n.1777-17_1777-16del
ENST00000339797.5:c.1423-17_1423-16del	ENSP00000343486.1:n.1423-17_1423-16del
ENST00000351556.7:c.1423-17_1423-16del	ENSP00000345878.3:n.1423-17_1423-16del
ENST00000395559.6:c.1423-17_1423-16del	ENSP00000378926.2:n.1423-17_1423-16del
ENST00000395562.2:c.1531-17_1531-16del	ENSP00000378929.2:n.1531-17_1531-16del
ENST00000466590.6:c.*1508-17_*1508-16del	ENSP00000473443.1:n.*1508-17_*1508-16del
NM_001142929.1:c.1423-17_1423-16del	NP_001136401.1:n.1423-17_1423-16del
NM_001142933.1:c.1531-17_1531-16del	NP_001136405.1:n.1531-17_1531-16del
NM_001142934.1:c.1423-17_1423-16del	NP_001136406.1:n.1423-17_1423-16del
NM_020549.4:c.1777-17_1777-16del	NP_065574.3:n.1777-17_1777-16del
NM_020984.3:c.1423-17_1423-16del	NP_066264.3:n.1423-17_1423-16del
NM_020985.3:c.1423-17_1423-16del	NP_066265.3:n.1423-17_1423-16del
NM_020986.3:c.1423-17_1423-16del	NP_066266.3:n.1423-17_1423-16del
NM_001142929.2:c.1423-17_1423-16del	NP_001136401.2:n.1423-17_1423-16del
NM_001142933.2:c.1531-17_1531-16del	NP_001136405.2:n.1531-17_1531-16del
NM_001142934.2:c.1423-17_1423-16del	NP_001136406.2:n.1423-17_1423-16del
NM_020549.5:c.1777-17_1777-16del MANE Select	NP_065574.4:n.1777-17_1777-16del
NM_020984.4:c.1423-17_1423-16del	NP_066264.4:n.1423-17_1423-16del
NM_020985.4:c.1423-17_1423-16del	NP_066265.4:n.1423-17_1423-16del
NM_020986.4:c.1423-17_1423-16del	NP_066266.4:n.1423-17_1423-16del