Canonical Allele Identifier: CA1522519507

Gene: SLC6A19

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1212964_1212974delinsCACAAGCACGG , CM000667.2:g.1212964_1212974delinsCACAAGCACGG	GRCh38
NC_000005.9:g.1213079_1213089delinsCACAAGCACGG , CM000667.1:g.1213079_1213089delinsCACAAGCACGG	GRCh37
NC_000005.8:g.1266079_1266089delinsCACAAGCACGG	NCBI36
NG_008282.1:g.16370_16380delinsCACAAGCACGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304460.11:c.663+480_664-489delinsCACAAGCACGG MANE Select	ENSP00000305302.10:n.663+480_664-489delinsCACAAGCACGG
ENST00000304460.10:c.663+480_664-489delinsCACAAGCACGG	ENSP00000305302.10:n.663+480_664-489delinsCACAAGCACGG
ENST00000515652.5:c.571+480_572-489delinsCACAAGCACGG	ENSP00000425701.1:n.571+480_572-489delinsCACAAGCACGG
NM_001003841.2:c.663+480_664-489delinsCACAAGCACGG	NP_001003841.1:n.663+480_664-489delinsCACAAGCACGG
NM_001003841.3:c.663+480_664-489delinsCACAAGCACGG MANE Select	NP_001003841.1:n.663+480_664-489delinsCACAAGCACGG