Canonical Allele Identifier: CA1072491901

Gene: SLC6A19

Linked Data

• gnomAD v3: 5-1212972-CGGCCCCCCTCCGCACCATCCCAAATACCCAGGCTCCCGCAGGCCCTGCCCCCCATCCCCACCCATTCCACATACCCAGCCGCCCGCAGGCCCTGCCTCCCGTCCCCACCCGTCCCACATGCTCGGCCCCCCGTCGCCCTGGGCCCCCTTCCCCAGATGCCCCAACCCCTGTAGGCCT-C
• gnomAD v4: 5-1212972-CGGCCCCCCTCCGCACCATCCCAAATACCCAGGCTCCCGCAGGCCCTGCCCCCCATCCCCACCCATTCCACATACCCAGCCGCCCGCAGGCCCTGCCTCCCGTCCCCACCCGTCCCACATGCTCGGCCCCCCGTCGCCCTGGGCCCCCTTCCCCAGATGCCCCAACCCCTGTAGGCCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1212995_1213171del , CM000667.2:g.1212995_1213171del	GRCh38
NC_000005.9:g.1213110_1213286del , CM000667.1:g.1213110_1213286del	GRCh37
NC_000005.8:g.1266110_1266286del	NCBI36
NG_008282.1:g.16401_16577del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304460.11:c.664-468_664-292del MANE Select	ENSP00000305302.10:n.664-468_664-292del
ENST00000304460.10:c.664-468_664-292del	ENSP00000305302.10:n.664-468_664-292del
ENST00000515652.5:c.572-468_572-292del	ENSP00000425701.1:n.572-468_572-292del
NM_001003841.2:c.664-468_664-292del	NP_001003841.1:n.664-468_664-292del
NM_001003841.3:c.664-468_664-292del MANE Select	NP_001003841.1:n.664-468_664-292del