Canonical Allele Identifier: CA1522519499

Gene: SLC6A19

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1212961_1212974delinsCACCACAAGCACGG , CM000667.2:g.1212961_1212974delinsCACCACAAGCACGG	GRCh38
NC_000005.9:g.1213076_1213089delinsCACCACAAGCACGG , CM000667.1:g.1213076_1213089delinsCACCACAAGCACGG	GRCh37
NC_000005.8:g.1266076_1266089delinsCACCACAAGCACGG	NCBI36
NG_008282.1:g.16367_16380delinsCACCACAAGCACGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304460.11:c.663+477_664-489delinsCACCACAAGCACGG MANE Select	ENSP00000305302.10:n.663+477_664-489delinsCACCACAAGCACGG
ENST00000304460.10:c.663+477_664-489delinsCACCACAAGCACGG	ENSP00000305302.10:n.663+477_664-489delinsCACCACAAGCACGG
ENST00000515652.5:c.571+477_572-489delinsCACCACAAGCACGG	ENSP00000425701.1:n.571+477_572-489delinsCACCACAAGCACGG
NM_001003841.2:c.663+477_664-489delinsCACCACAAGCACGG	NP_001003841.1:n.663+477_664-489delinsCACCACAAGCACGG
NM_001003841.3:c.663+477_664-489delinsCACCACAAGCACGG MANE Select	NP_001003841.1:n.663+477_664-489delinsCACCACAAGCACGG