Canonical Allele Identifier: CA2673072072

Gene: SLC6A19

Linked Data

• gnomAD v4: 5-1213328-ATGCC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1213330_1213333del , CM000667.2:g.1213330_1213333del	GRCh38
NC_000005.9:g.1213445_1213448del , CM000667.1:g.1213445_1213448del	GRCh37
NC_000005.8:g.1266445_1266448del	NCBI36
NG_008282.1:g.16736_16739del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304460.11:c.664-133_664-130del MANE Select	ENSP00000305302.10:n.664-133_664-130del
ENST00000304460.10:c.664-133_664-130del	ENSP00000305302.10:n.664-133_664-130del
ENST00000515652.5:c.572-133_572-130del	ENSP00000425701.1:n.572-133_572-130del
NM_001003841.2:c.664-133_664-130del	NP_001003841.1:n.664-133_664-130del
NM_001003841.3:c.664-133_664-130del MANE Select	NP_001003841.1:n.664-133_664-130del