Canonical Allele Identifier: CA1072491896
Gene: SLC6A19 HGNC NCBI

Linked Data

gnomAD v3: 5-1212972-CGG-C
gnomAD v4: 5-1212972-CGG-C
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1212973_1212974del , CM000667.2:g.1212973_1212974del GRCh38
NC_000005.9:g.1213088_1213089del , CM000667.1:g.1213088_1213089del GRCh37
NC_000005.8:g.1266088_1266089del NCBI36
NG_008282.1:g.16379_16380del

Transcript Alleles

HGVS Amino-acid Change
ENST00000304460.11:c.664-490_664-489del MANE Select ENSP00000305302.10:n.664-490_664-489del
ENST00000304460.10:c.664-490_664-489del ENSP00000305302.10:n.664-490_664-489del
ENST00000515652.5:c.572-490_572-489del ENSP00000425701.1:n.572-490_572-489del
NM_001003841.2:c.664-490_664-489del NP_001003841.1:n.664-490_664-489del
NM_001003841.3:c.664-490_664-489del MANE Select NP_001003841.1:n.664-490_664-489del
Search 100 bp 5'
Search 100 bp 3'