Canonical Allele Identifier: CA2554947847
Gene: SLC6A19 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1213038_1213084del , CM000667.2:g.1213038_1213084del GRCh38
NC_000005.9:g.1213153_1213199del , CM000667.1:g.1213153_1213199del GRCh37
NC_000005.8:g.1266153_1266199del NCBI36
NG_008282.1:g.16444_16490del

Transcript Alleles

HGVS Amino-acid Change
ENST00000304460.11:c.664-425_664-379del MANE Select ENSP00000305302.10:n.664-425_664-379del
ENST00000304460.10:c.664-425_664-379del ENSP00000305302.10:n.664-425_664-379del
ENST00000515652.5:c.572-425_572-379del ENSP00000425701.1:n.572-425_572-379del
NM_001003841.2:c.664-425_664-379del NP_001003841.1:n.664-425_664-379del
NM_001003841.3:c.664-425_664-379del MANE Select NP_001003841.1:n.664-425_664-379del