Canonical Allele Identifier: CA2673072087

Gene: SLC6A19

Linked Data

• gnomAD v4: 5-1213335-GCCCCCCGTAGGCCTGGCCCCCATTCCCCACATGCCCCGCCCCCATATGCCCCGCCCCCACGTGCCGCC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1213339_1213406del , CM000667.2:g.1213339_1213406del	GRCh38
NC_000005.9:g.1213454_1213521del , CM000667.1:g.1213454_1213521del	GRCh37
NC_000005.8:g.1266454_1266521del	NCBI36
NG_008282.1:g.16745_16812del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304460.11:c.664-124_664-57del MANE Select	ENSP00000305302.10:n.664-124_664-57del
ENST00000304460.10:c.664-124_664-57del	ENSP00000305302.10:n.664-124_664-57del
ENST00000515652.5:c.572-124_572-57del	ENSP00000425701.1:n.572-124_572-57del
NM_001003841.2:c.664-124_664-57del	NP_001003841.1:n.664-124_664-57del
NM_001003841.3:c.664-124_664-57del MANE Select	NP_001003841.1:n.664-124_664-57del