Canonical Allele Identifier: CA2673072132

Gene: SLC6A19

Linked Data

• gnomAD v4: 5-1213354-CCCATT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1213357_1213361del , CM000667.2:g.1213357_1213361del	GRCh38
NC_000005.9:g.1213472_1213476del , CM000667.1:g.1213472_1213476del	GRCh37
NC_000005.8:g.1266472_1266476del	NCBI36
NG_008282.1:g.16763_16767del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304460.11:c.664-106_664-102del MANE Select	ENSP00000305302.10:n.664-106_664-102del
ENST00000304460.10:c.664-106_664-102del	ENSP00000305302.10:n.664-106_664-102del
ENST00000515652.5:c.572-106_572-102del	ENSP00000425701.1:n.572-106_572-102del
NM_001003841.2:c.664-106_664-102del	NP_001003841.1:n.664-106_664-102del
NM_001003841.3:c.664-106_664-102del MANE Select	NP_001003841.1:n.664-106_664-102del