Canonical Allele Identifier: CA2673072481

Gene: SLC6A19

Linked Data

• gnomAD v4: 5-1213889-ACCC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1213890_1213892del , CM000667.2:g.1213890_1213892del	GRCh38
NC_000005.9:g.1214005_1214007del , CM000667.1:g.1214005_1214007del	GRCh37
NC_000005.8:g.1267005_1267007del	NCBI36
NG_008282.1:g.17296_17298del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304460.11:c.775-63_775-61del MANE Select	ENSP00000305302.10:n.775-63_775-61del
ENST00000304460.10:c.775-63_775-61del	ENSP00000305302.10:n.775-63_775-61del
ENST00000515652.5:c.683-63_683-61del	ENSP00000425701.1:n.683-63_683-61del
NM_001003841.2:c.775-63_775-61del	NP_001003841.1:n.775-63_775-61del
NM_001003841.3:c.775-63_775-61del MANE Select	NP_001003841.1:n.775-63_775-61del