Canonical Allele Identifier: CA1522520741

Gene: SLC6A19

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1213890_1213893delinsCCCT , CM000667.2:g.1213890_1213893delinsCCCT	GRCh38
NC_000005.9:g.1214005_1214008delinsCCCT , CM000667.1:g.1214005_1214008delinsCCCT	GRCh37
NC_000005.8:g.1267005_1267008delinsCCCT	NCBI36
NG_008282.1:g.17296_17299delinsCCCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304460.11:c.775-63_775-60delinsCCCT MANE Select	ENSP00000305302.10:n.775-63_775-60delinsCCCT
ENST00000304460.10:c.775-63_775-60delinsCCCT	ENSP00000305302.10:n.775-63_775-60delinsCCCT
ENST00000515652.5:c.683-63_683-60delinsCCCT	ENSP00000425701.1:n.683-63_683-60delinsCCCT
NM_001003841.2:c.775-63_775-60delinsCCCT	NP_001003841.1:n.775-63_775-60delinsCCCT
NM_001003841.3:c.775-63_775-60delinsCCCT MANE Select	NP_001003841.1:n.775-63_775-60delinsCCCT