Canonical Allele Identifier: CA2765038691
Gene: SLC6A19 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1213359_1213363del , CM000667.2:g.1213359_1213363del GRCh38
NC_000005.9:g.1213474_1213478del , CM000667.1:g.1213474_1213478del GRCh37
NC_000005.8:g.1266474_1266478del NCBI36
NG_008282.1:g.16765_16769del

Transcript Alleles

HGVS Amino-acid Change
ENST00000304460.11:c.664-104_664-100del MANE Select ENSP00000305302.10:n.664-104_664-100del
ENST00000304460.10:c.664-104_664-100del ENSP00000305302.10:n.664-104_664-100del
ENST00000515652.5:c.572-104_572-100del ENSP00000425701.1:n.572-104_572-100del
NM_001003841.2:c.664-104_664-100del NP_001003841.1:n.664-104_664-100del
NM_001003841.3:c.664-104_664-100del MANE Select NP_001003841.1:n.664-104_664-100del