Canonical Allele Identifier: CA2518656638

Gene: SLC6A19

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1212968_1212974del , CM000667.2:g.1212968_1212974del	GRCh38
NC_000005.9:g.1213083_1213089del , CM000667.1:g.1213083_1213089del	GRCh37
NC_000005.8:g.1266083_1266089del	NCBI36
NG_008282.1:g.16374_16380del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304460.11:c.663+484_664-489del MANE Select	ENSP00000305302.10:n.663+484_664-489del
ENST00000304460.10:c.663+484_664-489del	ENSP00000305302.10:n.663+484_664-489del
ENST00000515652.5:c.571+484_572-489del	ENSP00000425701.1:n.571+484_572-489del
NM_001003841.2:c.663+484_664-489del	NP_001003841.1:n.663+484_664-489del
NM_001003841.3:c.663+484_664-489del MANE Select	NP_001003841.1:n.663+484_664-489del