Canonical Allele Identifier: CA2673072055

Gene: SLC6A19

Linked Data

• gnomAD v4: 5-1213320-CTTCCAGCATG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1213321_1213330del , CM000667.2:g.1213321_1213330del	GRCh38
NC_000005.9:g.1213436_1213445del , CM000667.1:g.1213436_1213445del	GRCh37
NC_000005.8:g.1266436_1266445del	NCBI36
NG_008282.1:g.16727_16736del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304460.11:c.664-142_664-133del MANE Select	ENSP00000305302.10:n.664-142_664-133del
ENST00000304460.10:c.664-142_664-133del	ENSP00000305302.10:n.664-142_664-133del
ENST00000515652.5:c.572-142_572-133del	ENSP00000425701.1:n.572-142_572-133del
NM_001003841.2:c.664-142_664-133del	NP_001003841.1:n.664-142_664-133del
NM_001003841.3:c.664-142_664-133del MANE Select	NP_001003841.1:n.664-142_664-133del