Canonical Allele Identifier: CA2673072063

Gene: SLC6A19

Linked Data

• gnomAD v4: 5-1213324-CAGCATGCCTCG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1213325_1213335del , CM000667.2:g.1213325_1213335del	GRCh38
NC_000005.9:g.1213440_1213450del , CM000667.1:g.1213440_1213450del	GRCh37
NC_000005.8:g.1266440_1266450del	NCBI36
NG_008282.1:g.16731_16741del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304460.11:c.664-138_664-128del MANE Select	ENSP00000305302.10:n.664-138_664-128del
ENST00000304460.10:c.664-138_664-128del	ENSP00000305302.10:n.664-138_664-128del
ENST00000515652.5:c.572-138_572-128del	ENSP00000425701.1:n.572-138_572-128del
NM_001003841.2:c.664-138_664-128del	NP_001003841.1:n.664-138_664-128del
NM_001003841.3:c.664-138_664-128del MANE Select	NP_001003841.1:n.664-138_664-128del