Canonical Allele Identifier: CA1072492012
Gene: SLC6A19 HGNC NCBI

Linked Data

gnomAD v3: 5-1213003-GGCTCCCGCAGGC-G
gnomAD v4: 5-1213003-GGCTCCCGCAGGC-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1213004_1213015del , CM000667.2:g.1213004_1213015del GRCh38
NC_000005.9:g.1213119_1213130del , CM000667.1:g.1213119_1213130del GRCh37
NC_000005.8:g.1266119_1266130del NCBI36
NG_008282.1:g.16410_16421del

Transcript Alleles

HGVS Amino-acid Change
ENST00000304460.11:c.664-459_664-448del MANE Select ENSP00000305302.10:n.664-459_664-448del
ENST00000304460.10:c.664-459_664-448del ENSP00000305302.10:n.664-459_664-448del
ENST00000515652.5:c.572-459_572-448del ENSP00000425701.1:n.572-459_572-448del
NM_001003841.2:c.664-459_664-448del NP_001003841.1:n.664-459_664-448del
NM_001003841.3:c.664-459_664-448del MANE Select NP_001003841.1:n.664-459_664-448del
Search 100 bp 5'
Search 100 bp 3'