Canonical Allele Identifier: CA1522519665

Gene: SLC6A19

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1213141_1213341delinsTGTAGGCCTGGCCCCCCTCCGCACCATCCCACATACCCGGACTCCACAGGCCTGGCCCCCCATCCCCATCCATTCCACATGCTCTGCCCTCCGCAGGCCCCGCCCCCCACAGCCCCTGCCCCCATCCCCACCCCTCCCACATGCCCTGTCCCCCCAACAGGCCTGGCCCCCTCCCCACCCTTCCAGCATGCCTCGCCCCCC , CM000667.2:g.1213141_1213341delinsTGTAGGCCTGGCCCCCCTCCGCACCATCCCACATACCCGGACTCCACAGGCCTGGCCCCCCATCCCCATCCATTCCACATGCTCTGCCCTCCGCAGGCCCCGCCCCCCACAGCCCCTGCCCCCATCCCCACCCCTCCCACATGCCCTGTCCCCCCAACAGGCCTGGCCCCCTCCCCACCCTTCCAGCATGCCTCGCCCCCC	GRCh38
NC_000005.9:g.1213256_1213456delinsTGTAGGCCTGGCCCCCCTCCGCACCATCCCACATACCCGGACTCCACAGGCCTGGCCCCCCATCCCCATCCATTCCACATGCTCTGCCCTCCGCAGGCCCCGCCCCCCACAGCCCCTGCCCCCATCCCCACCCCTCCCACATGCCCTGTCCCCCCAACAGGCCTGGCCCCCTCCCCACCCTTCCAGCATGCCTCGCCCCCC , CM000667.1:g.1213256_1213456delinsTGTAGGCCTGGCCCCCCTCCGCACCATCCCACATACCCGGACTCCACAGGCCTGGCCCCCCATCCCCATCCATTCCACATGCTCTGCCCTCCGCAGGCCCCGCCCCCCACAGCCCCTGCCCCCATCCCCACCCCTCCCACATGCCCTGTCCCCCCAACAGGCCTGGCCCCCTCCCCACCCTTCCAGCATGCCTCGCCCCCC	GRCh37
NC_000005.8:g.1266256_1266456delinsTGTAGGCCTGGCCCCCCTCCGCACCATCCCACATACCCGGACTCCACAGGCCTGGCCCCCCATCCCCATCCATTCCACATGCTCTGCCCTCCGCAGGCCCCGCCCCCCACAGCCCCTGCCCCCATCCCCACCCCTCCCACATGCCCTGTCCCCCCAACAGGCCTGGCCCCCTCCCCACCCTTCCAGCATGCCTCGCCCCCC	NCBI36
NG_008282.1:g.16547_16747delinsTGTAGGCCTGGCCCCCCTCCGCACCATCCCACATACCCGGACTCCACAGGCCTGGCCCCCCATCCCCATCCATTCCACATGCTCTGCCCTCCGCAGGCCCCGCCCCCCACAGCCCCTGCCCCCATCCCCACCCCTCCCACATGCCCTGTCCCCCCAACAGGCCTGGCCCCCTCCCCACCCTTCCAGCATGCCTCGCCCCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304460.11:c.664-322_664-122delinsTGTAGGCCTGGCCCCCCTCCGCACCATCCCACATACCCGGACTCCACAGGCCTGGCCCCCCATCCCCATCCATTCCACATGCTCTGCCCTCCGCAGGCCCCGCCCCCCACAGCCCCTGCCCCCATCCCCACCCCTCCCACATGCCCTGTCCCCCCAACAGGCCTGGCCCCCTCCCCACCCTTCCAGCATGCCTCGCCCCCC MANE Select	ENSP00000305302.10:n.664-322_664-122delinsTGTAGGCCTGGCCCCCCTC...
ENST00000304460.10:c.664-322_664-122delinsTGTAGGCCTGGCCCCCCTCCGCACCATCCCACATACCCGGACTCCACAGGCCTGGCCCCCCATCCCCATCCATTCCACATGCTCTGCCCTCCGCAGGCCCCGCCCCCCACAGCCCCTGCCCCCATCCCCACCCCTCCCACATGCCCTGTCCCCCCAACAGGCCTGGCCCCCTCCCCACCCTTCCAGCATGCCTCGCCCCCC	ENSP00000305302.10:n.664-322_664-122delinsTGTAGGCCTGGCCCCCCTC...
ENST00000515652.5:c.572-322_572-122delinsTGTAGGCCTGGCCCCCCTCCGCACCATCCCACATACCCGGACTCCACAGGCCTGGCCCCCCATCCCCATCCATTCCACATGCTCTGCCCTCCGCAGGCCCCGCCCCCCACAGCCCCTGCCCCCATCCCCACCCCTCCCACATGCCCTGTCCCCCCAACAGGCCTGGCCCCCTCCCCACCCTTCCAGCATGCCTCGCCCCCC	ENSP00000425701.1:n.572-322_572-122delinsTGTAGGCCTGGCCCCCCTCC...
NM_001003841.2:c.664-322_664-122delinsTGTAGGCCTGGCCCCCCTCCGCACCATCCCACATACCCGGACTCCACAGGCCTGGCCCCCCATCCCCATCCATTCCACATGCTCTGCCCTCCGCAGGCCCCGCCCCCCACAGCCCCTGCCCCCATCCCCACCCCTCCCACATGCCCTGTCCCCCCAACAGGCCTGGCCCCCTCCCCACCCTTCCAGCATGCCTCGCCCCCC	NP_001003841.1:n.664-322_664-122delinsTGTAGGCCTGGCCCCCCTCCGCA...
NM_001003841.3:c.664-322_664-122delinsTGTAGGCCTGGCCCCCCTCCGCACCATCCCACATACCCGGACTCCACAGGCCTGGCCCCCCATCCCCATCCATTCCACATGCTCTGCCCTCCGCAGGCCCCGCCCCCCACAGCCCCTGCCCCCATCCCCACCCCTCCCACATGCCCTGTCCCCCCAACAGGCCTGGCCCCCTCCCCACCCTTCCAGCATGCCTCGCCCCCC MANE Select	NP_001003841.1:n.664-322_664-122delinsTGTAGGCCTGGCCCCCCTCCGCA...