Canonical Allele Identifier: CA2673072479

Gene: SLC6A19

Linked Data

• gnomAD v4: 5-1213885-GCA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1213889_1213890del , CM000667.2:g.1213889_1213890del	GRCh38
NC_000005.9:g.1214004_1214005del , CM000667.1:g.1214004_1214005del	GRCh37
NC_000005.8:g.1267004_1267005del	NCBI36
NG_008282.1:g.17295_17296del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304460.11:c.775-64_775-63del MANE Select	ENSP00000305302.10:n.775-64_775-63del
ENST00000304460.10:c.775-64_775-63del	ENSP00000305302.10:n.775-64_775-63del
ENST00000515652.5:c.683-64_683-63del	ENSP00000425701.1:n.683-64_683-63del
NM_001003841.2:c.775-64_775-63del	NP_001003841.1:n.775-64_775-63del
NM_001003841.3:c.775-64_775-63del MANE Select	NP_001003841.1:n.775-64_775-63del