Canonical Allele Identifier: CA2609144752

Gene: CHAT

Linked Data

• gnomAD v4: 10-49625546-CTCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49625550_49625552del , CM000672.2:g.49625550_49625552del	GRCh38
NC_000010.10:g.50833596_50833598del , CM000672.1:g.50833596_50833598del	GRCh37
NC_000010.9:g.50503602_50503604del	NCBI36
NG_011797.1:g.21456_21458del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337653.7:c.830_832del MANE Select	ENSP00000337103.2:p.Phe277del
ENST00000337653.6:c.830_832del	ENSP00000337103.2:p.Phe277del
ENST00000339797.5:c.476_478del	ENSP00000343486.1:p.Phe159del
ENST00000351556.7:c.476_478del	ENSP00000345878.3:p.Phe159del
ENST00000395559.6:c.476_478del	ENSP00000378926.2:p.Phe159del
ENST00000395562.2:c.584_586del	ENSP00000378929.2:p.Phe195del
ENST00000466590.6:c.*561_*563del	ENSP00000473443.1:n.*561_*563del
NM_001142929.1:c.476_478del	NP_001136401.1:p.Phe159del
NM_001142933.1:c.584_586del	NP_001136405.1:p.Phe195del
NM_001142934.1:c.476_478del	NP_001136406.1:p.Phe159del
NM_020549.4:c.830_832del	NP_065574.3:p.Phe277del
NM_020984.3:c.476_478del	NP_066264.3:p.Phe159del
NM_020985.3:c.476_478del	NP_066265.3:p.Phe159del
NM_020986.3:c.476_478del	NP_066266.3:p.Phe159del
NM_001142929.2:c.476_478del	NP_001136401.2:p.Phe159del
NM_001142933.2:c.584_586del	NP_001136405.2:p.Phe195del
NM_001142934.2:c.476_478del	NP_001136406.2:p.Phe159del
NM_020549.5:c.830_832del MANE Select	NP_065574.4:p.Phe277del
NM_020984.4:c.476_478del	NP_066264.4:p.Phe159del
NM_020985.4:c.476_478del	NP_066265.4:p.Phe159del
NM_020986.4:c.476_478del	NP_066266.4:p.Phe159del