Canonical Allele Identifier: CA2673072093

Gene: SLC6A19

Linked Data

• gnomAD v4: 5-1213339-CCCGTAGGCCTGGCCCCCATTCCCCACATGCCCCGCCCCCATATGCCCCGCCCCCACGTGCCGCCCCCA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1213343_1213410del , CM000667.2:g.1213343_1213410del	GRCh38
NC_000005.9:g.1213458_1213525del , CM000667.1:g.1213458_1213525del	GRCh37
NC_000005.8:g.1266458_1266525del	NCBI36
NG_008282.1:g.16749_16816del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304460.11:c.664-120_664-53del MANE Select	ENSP00000305302.10:n.664-120_664-53del
ENST00000304460.10:c.664-120_664-53del	ENSP00000305302.10:n.664-120_664-53del
ENST00000515652.5:c.572-120_572-53del	ENSP00000425701.1:n.572-120_572-53del
NM_001003841.2:c.664-120_664-53del	NP_001003841.1:n.664-120_664-53del
NM_001003841.3:c.664-120_664-53del MANE Select	NP_001003841.1:n.664-120_664-53del