Canonical Allele Identifier: CA1072492920
Gene: SLC6A19 HGNC NCBI

Linked Data

dbSNP Id: rs1746100973
gnomAD v3: 5-1213307-CCCCCTCCCCACCCTTCCAGCATGCCTCGCCCCCCGTAGGCCTGGCCCCCATTCCCCACATGCCCCGCCCCCATATGCCCCGCCCCCACGTGCCGCCCCCACCGCATGCCT-C
gnomAD v4: 5-1213307-CCCCCTCCCCACCCTTCCAGCATGCCTCGCCCCCCGTAGGCCTGGCCCCCATTCCCCACATGCCCCGCCCCCATATGCCCCGCCCCCACGTGCCGCCCCCACCGCATGCCT-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1213308_1213417del , CM000667.2:g.1213308_1213417del GRCh38
NC_000005.9:g.1213423_1213532del , CM000667.1:g.1213423_1213532del GRCh37
NC_000005.8:g.1266423_1266532del NCBI36
NG_008282.1:g.16714_16823del

Transcript Alleles

HGVS Amino-acid change
ENST00000304460.11:c.664-155_664-46del MANE Select ENSP00000305302.10:n.664-155_664-46del
ENST00000304460.10:c.664-155_664-46del ENSP00000305302.10:n.664-155_664-46del
ENST00000515652.5:c.572-155_572-46del ENSP00000425701.1:n.572-155_572-46del
NM_001003841.2:c.664-155_664-46del NP_001003841.1:n.664-155_664-46del
NM_001003841.3:c.664-155_664-46del MANE Select NP_001003841.1:n.664-155_664-46del
Search 100 bp 5'
Search 100 bp 3'