Canonical Allele Identifier: CA557557434

Gene: SLC6A19

Linked Data

• gnomAD v2: 5-1213857-G-GGGGCCTGGGGCAGCTCCTGGGAGGGTGGCTTTGCCCCTGTGAGCCGAC
• MyVariant Identifiers: chr5:g.1213857_1213858insGGGCCTGGGGCAGCTCCTGGGAGGGTGGCTTTGCCCCTGTGAGCCGAC (hg19) ; chr5:g.1213742_1213743insGGGCCTGGGGCAGCTCCTGGGAGGGTGGCTTTGCCCCTGTGAGCCGAC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1213745_1213792dup , CM000667.2:g.1213745_1213792dup	GRCh38
NC_000005.9:g.1213860_1213907dup , CM000667.1:g.1213860_1213907dup	GRCh37
NC_000005.8:g.1266860_1266907dup	NCBI36
NG_008282.1:g.17151_17198dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304460.11:c.774+172_775-161dup MANE Select	ENSP00000305302.10:n.774+172_775-161dup
ENST00000304460.10:c.774+172_775-161dup	ENSP00000305302.10:n.774+172_775-161dup
ENST00000515652.5:c.682+172_683-161dup	ENSP00000425701.1:n.682+172_683-161dup
NM_001003841.2:c.774+172_775-161dup	NP_001003841.1:n.774+172_775-161dup
NM_001003841.3:c.774+172_775-161dup MANE Select	NP_001003841.1:n.774+172_775-161dup