Canonical Allele Identifier: CA2673072486

Gene: SLC6A19

Linked Data

• gnomAD v4: 5-1213893-TCCC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1213894_1213896del , CM000667.2:g.1213894_1213896del	GRCh38
NC_000005.9:g.1214009_1214011del , CM000667.1:g.1214009_1214011del	GRCh37
NC_000005.8:g.1267009_1267011del	NCBI36
NG_008282.1:g.17300_17302del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304460.11:c.775-59_775-57del MANE Select	ENSP00000305302.10:n.775-59_775-57del
ENST00000304460.10:c.775-59_775-57del	ENSP00000305302.10:n.775-59_775-57del
ENST00000515652.5:c.683-59_683-57del	ENSP00000425701.1:n.683-59_683-57del
NM_001003841.2:c.775-59_775-57del	NP_001003841.1:n.775-59_775-57del
NM_001003841.3:c.775-59_775-57del MANE Select	NP_001003841.1:n.775-59_775-57del