Canonical Allele Identifier: CA2673072067
Gene: SLC6A19 HGNC NCBI

Linked Data

gnomAD v4: 5-1213325-AGCATGCCTCGCCCCCCGTAGGCCTGGCCCCCATTCCCCACATGCCCCGCCCCCATATGCCCCGCCCCCACGTGCCGCCCCCACC-A
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1213334_1213417del , CM000667.2:g.1213334_1213417del GRCh38
NC_000005.9:g.1213449_1213532del , CM000667.1:g.1213449_1213532del GRCh37
NC_000005.8:g.1266449_1266532del NCBI36
NG_008282.1:g.16740_16823del

Transcript Alleles

HGVS Amino-acid change
ENST00000304460.11:c.664-129_664-46del MANE Select ENSP00000305302.10:n.664-129_664-46del
ENST00000304460.10:c.664-129_664-46del ENSP00000305302.10:n.664-129_664-46del
ENST00000515652.5:c.572-129_572-46del ENSP00000425701.1:n.572-129_572-46del
NM_001003841.2:c.664-129_664-46del NP_001003841.1:n.664-129_664-46del
NM_001003841.3:c.664-129_664-46del MANE Select NP_001003841.1:n.664-129_664-46del
Search 100 bp 5'
Search 100 bp 3'