Canonical Allele Identifier: CA1072491803
Gene: SLC6A19 HGNC NCBI

Linked Data

gnomAD v3: 5-1212944-TCGTCCCACATGCCCCCCACCACAAGCACGGCCCCCCTCCGCACCATCCCAAATACCCAGGCTCCCGCAGGCCCTGCCCCCCATCCCCACCCATTCCACATACCCAGCCGCCCGCAGGCCCTGCCTCCCGTCCCCACC-T
gnomAD v4: 5-1212944-TCGTCCCACATGCCCCCCACCACAAGCACGGCCCCCCTCCGCACCATCCCAAATACCCAGGCTCCCGCAGGCCCTGCCCCCCATCCCCACCCATTCCACATACCCAGCCGCCCGCAGGCCCTGCCTCCCGTCCCCACC-T
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1212957_1213093del , CM000667.2:g.1212957_1213093del GRCh38
NC_000005.9:g.1213072_1213208del , CM000667.1:g.1213072_1213208del GRCh37
NC_000005.8:g.1266072_1266208del NCBI36
NG_008282.1:g.16363_16499del

Transcript Alleles

HGVS Amino-acid Change
ENST00000304460.11:c.663+473_664-370del MANE Select ENSP00000305302.10:n.663+473_664-370del
ENST00000304460.10:c.663+473_664-370del ENSP00000305302.10:n.663+473_664-370del
ENST00000515652.5:c.571+473_572-370del ENSP00000425701.1:n.571+473_572-370del
NM_001003841.2:c.663+473_664-370del NP_001003841.1:n.663+473_664-370del
NM_001003841.3:c.663+473_664-370del MANE Select NP_001003841.1:n.663+473_664-370del
Search 100 bp 5'
Search 100 bp 3'