Canonical Allele Identifier: CA2673072142

Gene: SLC6A19

Linked Data

• gnomAD v4: 5-1213357-ATTCCCCAC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1213358_1213365del , CM000667.2:g.1213358_1213365del	GRCh38
NC_000005.9:g.1213473_1213480del , CM000667.1:g.1213473_1213480del	GRCh37
NC_000005.8:g.1266473_1266480del	NCBI36
NG_008282.1:g.16764_16771del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304460.11:c.664-105_664-98del MANE Select	ENSP00000305302.10:n.664-105_664-98del
ENST00000304460.10:c.664-105_664-98del	ENSP00000305302.10:n.664-105_664-98del
ENST00000515652.5:c.572-105_572-98del	ENSP00000425701.1:n.572-105_572-98del
NM_001003841.2:c.664-105_664-98del	NP_001003841.1:n.664-105_664-98del
NM_001003841.3:c.664-105_664-98del MANE Select	NP_001003841.1:n.664-105_664-98del