Canonical Allele Identifier: CA2499482506
Gene: SLC6A19 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1212989_1212990del , CM000667.2:g.1212989_1212990del GRCh38
NC_000005.9:g.1213104_1213105del , CM000667.1:g.1213104_1213105del GRCh37
NC_000005.8:g.1266104_1266105del NCBI36
NG_008282.1:g.16395_16396del

Transcript Alleles

HGVS Amino-acid Change
ENST00000304460.11:c.664-474_664-473del MANE Select ENSP00000305302.10:n.664-474_664-473del
ENST00000304460.10:c.664-474_664-473del ENSP00000305302.10:n.664-474_664-473del
ENST00000515652.5:c.572-474_572-473del ENSP00000425701.1:n.572-474_572-473del
NM_001003841.2:c.664-474_664-473del NP_001003841.1:n.664-474_664-473del
NM_001003841.3:c.664-474_664-473del MANE Select NP_001003841.1:n.664-474_664-473del