Canonical Allele Identifier: CA1522519557

Gene: SLC6A19

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1213006_1213053delinsTCCCGCAGGCCCTGCCCCCCATCCCCACCCATTCCACATACCCAGCCG , CM000667.2:g.1213006_1213053delinsTCCCGCAGGCCCTGCCCCCCATCCCCACCCATTCCACATACCCAGCCG	GRCh38
NC_000005.9:g.1213121_1213168delinsTCCCGCAGGCCCTGCCCCCCATCCCCACCCATTCCACATACCCAGCCG , CM000667.1:g.1213121_1213168delinsTCCCGCAGGCCCTGCCCCCCATCCCCACCCATTCCACATACCCAGCCG	GRCh37
NC_000005.8:g.1266121_1266168delinsTCCCGCAGGCCCTGCCCCCCATCCCCACCCATTCCACATACCCAGCCG	NCBI36
NG_008282.1:g.16412_16459delinsTCCCGCAGGCCCTGCCCCCCATCCCCACCCATTCCACATACCCAGCCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304460.11:c.664-457_664-410delinsTCCCGCAGGCCCTGCCCCCCATCCCCACCCATTCCACATACCCAGCCG MANE Select	ENSP00000305302.10:n.664-457_664-410delinsTCCCGCAGGCCCTGCCCCC...
ENST00000304460.10:c.664-457_664-410delinsTCCCGCAGGCCCTGCCCCCCATCCCCACCCATTCCACATACCCAGCCG	ENSP00000305302.10:n.664-457_664-410delinsTCCCGCAGGCCCTGCCCCC...
ENST00000515652.5:c.572-457_572-410delinsTCCCGCAGGCCCTGCCCCCCATCCCCACCCATTCCACATACCCAGCCG	ENSP00000425701.1:n.572-457_572-410delinsTCCCGCAGGCCCTGCCCCCC...
NM_001003841.2:c.664-457_664-410delinsTCCCGCAGGCCCTGCCCCCCATCCCCACCCATTCCACATACCCAGCCG	NP_001003841.1:n.664-457_664-410delinsTCCCGCAGGCCCTGCCCCCCATC...
NM_001003841.3:c.664-457_664-410delinsTCCCGCAGGCCCTGCCCCCCATCCCCACCCATTCCACATACCCAGCCG MANE Select	NP_001003841.1:n.664-457_664-410delinsTCCCGCAGGCCCTGCCCCCCATC...