Canonical Allele Identifier: CA2673072226
Gene: SLC6A19 HGNC NCBI

Linked Data

gnomAD v4: 5-1213380-TATGCC-T
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1213381_1213385del , CM000667.2:g.1213381_1213385del GRCh38
NC_000005.9:g.1213496_1213500del , CM000667.1:g.1213496_1213500del GRCh37
NC_000005.8:g.1266496_1266500del NCBI36
NG_008282.1:g.16787_16791del

Transcript Alleles

HGVS Amino-acid Change
ENST00000304460.11:c.664-82_664-78del MANE Select ENSP00000305302.10:n.664-82_664-78del
ENST00000304460.10:c.664-82_664-78del ENSP00000305302.10:n.664-82_664-78del
ENST00000515652.5:c.572-82_572-78del ENSP00000425701.1:n.572-82_572-78del
NM_001003841.2:c.664-82_664-78del NP_001003841.1:n.664-82_664-78del
NM_001003841.3:c.664-82_664-78del MANE Select NP_001003841.1:n.664-82_664-78del
Search 100 bp 5'
Search 100 bp 3'