Canonical Allele Identifier: CA2673072206

Gene: SLC6A19

Linked Data

• gnomAD v4: 5-1213376-C-CTCCGCAGG

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1213376_1213377insTCCGCAGG , CM000667.2:g.1213376_1213377insTCCGCAGG	GRCh38
NC_000005.9:g.1213491_1213492insTCCGCAGG , CM000667.1:g.1213491_1213492insTCCGCAGG	GRCh37
NC_000005.8:g.1266491_1266492insTCCGCAGG	NCBI36
NG_008282.1:g.16782_16783insTCCGCAGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304460.11:c.664-87_664-86insTCCGCAGG MANE Select	ENSP00000305302.10:n.664-87_664-86insTCCGCAGG
ENST00000304460.10:c.664-87_664-86insTCCGCAGG	ENSP00000305302.10:n.664-87_664-86insTCCGCAGG
ENST00000515652.5:c.572-87_572-86insTCCGCAGG	ENSP00000425701.1:n.572-87_572-86insTCCGCAGG
NM_001003841.2:c.664-87_664-86insTCCGCAGG	NP_001003841.1:n.664-87_664-86insTCCGCAGG
NM_001003841.3:c.664-87_664-86insTCCGCAGG MANE Select	NP_001003841.1:n.664-87_664-86insTCCGCAGG