Canonical Allele Identifier: CA1072492449

Gene: SLC6A19

Linked Data

• gnomAD v3: 5-1213234-CAGGCCCCGCCCCCCACAGCCCCTGCCCCCATCCCCACCCCTCCCACATGCCCTGTCCCCCCAACAGGCCTGGCCCCCTCCCCACCCTTCCAGCATGCCTCGCCCCCCGT-C
• gnomAD v4: 5-1213234-CAGGCCCCGCCCCCCACAGCCCCTGCCCCCATCCCCACCCCTCCCACATGCCCTGTCCCCCCAACAGGCCTGGCCCCCTCCCCACCCTTCCAGCATGCCTCGCCCCCCGT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1213240_1213348del , CM000667.2:g.1213240_1213348del	GRCh38
NC_000005.9:g.1213355_1213463del , CM000667.1:g.1213355_1213463del	GRCh37
NC_000005.8:g.1266355_1266463del	NCBI36
NG_008282.1:g.16646_16754del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304460.11:c.664-223_664-115del MANE Select	ENSP00000305302.10:n.664-223_664-115del
ENST00000304460.10:c.664-223_664-115del	ENSP00000305302.10:n.664-223_664-115del
ENST00000515652.5:c.572-223_572-115del	ENSP00000425701.1:n.572-223_572-115del
NM_001003841.2:c.664-223_664-115del	NP_001003841.1:n.664-223_664-115del
NM_001003841.3:c.664-223_664-115del MANE Select	NP_001003841.1:n.664-223_664-115del