Canonical Allele Identifier: CA2518948640
Gene: SLC6A19 HGNC NCBI

Linked Data

gnomAD v4: 5-1213353-CCCCATTCCCCACATGCCCCGCCCCCATATGCCCCGCCCCCACGTGCCGCCCCCACCGCATGCCTGGCCCCCCAACTTCCCG-C
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1213359_1213439del , CM000667.2:g.1213359_1213439del GRCh38
NC_000005.9:g.1213474_1213554del , CM000667.1:g.1213474_1213554del GRCh37
NC_000005.8:g.1266474_1266554del NCBI36
NG_008282.1:g.16765_16845del

Transcript Alleles

HGVS Amino-acid change
ENST00000304460.11:c.664-104_664-24del MANE Select ENSP00000305302.10:n.664-104_664-24del
ENST00000304460.10:c.664-104_664-24del ENSP00000305302.10:n.664-104_664-24del
ENST00000515652.5:c.572-104_572-24del ENSP00000425701.1:n.572-104_572-24del
NM_001003841.2:c.664-104_664-24del NP_001003841.1:n.664-104_664-24del
NM_001003841.3:c.664-104_664-24del MANE Select NP_001003841.1:n.664-104_664-24del
Search 100 bp 5'
Search 100 bp 3'