Canonical Allele Identifier: CA2765038649
Gene: SLC6A19 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1213212_1213320del , CM000667.2:g.1213212_1213320del GRCh38
NC_000005.9:g.1213327_1213435del , CM000667.1:g.1213327_1213435del GRCh37
NC_000005.8:g.1266327_1266435del NCBI36
NG_008282.1:g.16618_16726del

Transcript Alleles

HGVS Amino-acid Change
ENST00000304460.11:c.664-251_664-143del MANE Select ENSP00000305302.10:n.664-251_664-143del
ENST00000304460.10:c.664-251_664-143del ENSP00000305302.10:n.664-251_664-143del
ENST00000515652.5:c.572-251_572-143del ENSP00000425701.1:n.572-251_572-143del
NM_001003841.2:c.664-251_664-143del NP_001003841.1:n.664-251_664-143del
NM_001003841.3:c.664-251_664-143del MANE Select NP_001003841.1:n.664-251_664-143del
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