Canonical Allele Identifier: CA2673072078

Gene: SLC6A19

Linked Data

• gnomAD v4: 5-1213333-TCGCCCCCCG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1213334_1213342del , CM000667.2:g.1213334_1213342del	GRCh38
NC_000005.9:g.1213449_1213457del , CM000667.1:g.1213449_1213457del	GRCh37
NC_000005.8:g.1266449_1266457del	NCBI36
NG_008282.1:g.16740_16748del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304460.11:c.664-129_664-121del MANE Select	ENSP00000305302.10:n.664-129_664-121del
ENST00000304460.10:c.664-129_664-121del	ENSP00000305302.10:n.664-129_664-121del
ENST00000515652.5:c.572-129_572-121del	ENSP00000425701.1:n.572-129_572-121del
NM_001003841.2:c.664-129_664-121del	NP_001003841.1:n.664-129_664-121del
NM_001003841.3:c.664-129_664-121del MANE Select	NP_001003841.1:n.664-129_664-121del