Canonical Allele Identifier: CA1072491726
Gene: SLC6A19 HGNC NCBI

Linked Data

gnomAD v3: 5-1212938-TCCCACTCGTCCCACATGCCCCCCACCACAAGCACGGCCCCCCTCCGCACCATCCCAAATACCCAGGCTCCCGCAGGCCCTGCCCCCCATCCCCACCCATTCCACATACCCAGCCGCCCGCAGGCCCTGCCTCCCGTC-T
gnomAD v4: 5-1212938-TCCCACTCGTCCCACATGCCCCCCACCACAAGCACGGCCCCCCTCCGCACCATCCCAAATACCCAGGCTCCCGCAGGCCCTGCCCCCCATCCCCACCCATTCCACATACCCAGCCGCCCGCAGGCCCTGCCTCCCGTC-T
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1212944_1213080del , CM000667.2:g.1212944_1213080del GRCh38
NC_000005.9:g.1213059_1213195del , CM000667.1:g.1213059_1213195del GRCh37
NC_000005.8:g.1266059_1266195del NCBI36
NG_008282.1:g.16350_16486del

Transcript Alleles

HGVS Amino-acid Change
ENST00000304460.11:c.663+460_664-383del MANE Select ENSP00000305302.10:n.663+460_664-383del
ENST00000304460.10:c.663+460_664-383del ENSP00000305302.10:n.663+460_664-383del
ENST00000515652.5:c.571+460_572-383del ENSP00000425701.1:n.571+460_572-383del
NM_001003841.2:c.663+460_664-383del NP_001003841.1:n.663+460_664-383del
NM_001003841.3:c.663+460_664-383del MANE Select NP_001003841.1:n.663+460_664-383del
Search 100 bp 5'
Search 100 bp 3'