Canonical Allele Identifier: CA982866185
Gene:

Linked Data

gnomAD v3: 17-30237278-G-GTGACTTCAGCGCTT
gnomAD v4: 17-30237278-G-GTGACTTCAGCGCTT
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.30237278_30237279insTGACTTCAGCGCTT , CM000679.2:g.30237278_30237279insTGACTTCAGCGCTT GRCh38
NC_000017.10:g.28564296_28564297insTGACTTCAGCGCTT , CM000679.1:g.28564296_28564297insTGACTTCAGCGCTT GRCh37
NC_000017.9:g.25588422_25588423insTGACTTCAGCGCTT NCBI36
NG_011747.2:g.3658_3659insAAGCGCTGAAGTCA

Transcript Alleles

HGVS Amino-acid Change
XR_934654.1:n.165+208_165+209insTGACTTCAGCGCTT
XR_001752824.1:n.280+208_280+209insTGACTTCAGCGCTT
Search 100 bp 5'
Search 100 bp 3'