Canonical Allele Identifier: CA1522519590

Gene: SLC6A19

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1213038_1213085delinsTCCACATACCCAGCCGCCCGCAGGCCCTGCCTCCCGTCCCCACCCGTC , CM000667.2:g.1213038_1213085delinsTCCACATACCCAGCCGCCCGCAGGCCCTGCCTCCCGTCCCCACCCGTC	GRCh38
NC_000005.9:g.1213153_1213200delinsTCCACATACCCAGCCGCCCGCAGGCCCTGCCTCCCGTCCCCACCCGTC , CM000667.1:g.1213153_1213200delinsTCCACATACCCAGCCGCCCGCAGGCCCTGCCTCCCGTCCCCACCCGTC	GRCh37
NC_000005.8:g.1266153_1266200delinsTCCACATACCCAGCCGCCCGCAGGCCCTGCCTCCCGTCCCCACCCGTC	NCBI36
NG_008282.1:g.16444_16491delinsTCCACATACCCAGCCGCCCGCAGGCCCTGCCTCCCGTCCCCACCCGTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304460.11:c.664-425_664-378delinsTCCACATACCCAGCCGCCCGCAGGCCCTGCCTCCCGTCCCCACCCGTC MANE Select	ENSP00000305302.10:n.664-425_664-378delinsTCCACATACCCAGCCGCCC...
ENST00000304460.10:c.664-425_664-378delinsTCCACATACCCAGCCGCCCGCAGGCCCTGCCTCCCGTCCCCACCCGTC	ENSP00000305302.10:n.664-425_664-378delinsTCCACATACCCAGCCGCCC...
ENST00000515652.5:c.572-425_572-378delinsTCCACATACCCAGCCGCCCGCAGGCCCTGCCTCCCGTCCCCACCCGTC	ENSP00000425701.1:n.572-425_572-378delinsTCCACATACCCAGCCGCCCG...
NM_001003841.2:c.664-425_664-378delinsTCCACATACCCAGCCGCCCGCAGGCCCTGCCTCCCGTCCCCACCCGTC	NP_001003841.1:n.664-425_664-378delinsTCCACATACCCAGCCGCCCGCAG...
NM_001003841.3:c.664-425_664-378delinsTCCACATACCCAGCCGCCCGCAGGCCCTGCCTCCCGTCCCCACCCGTC MANE Select	NP_001003841.1:n.664-425_664-378delinsTCCACATACCCAGCCGCCCGCAG...