Canonical Allele Identifier: CA2658995169
Gene: STON1-GTF2A1L HGNC NCBI
LHCGR HGNC NCBI

Linked Data

gnomAD v4: 2-48755740-C-CT
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.48755741dup , CM000664.2:g.48755741dup GRCh38
NC_000002.11:g.48982880dup , CM000664.1:g.48982880dup GRCh37
NC_000002.10:g.48836384dup NCBI36
NG_008193.1:g.5001dup
NG_033050.1:g.230817dup
NG_008193.2:g.5001dup
NG_033050.2:g.230817dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000402114.6:c.3442-20539dup (STON1-GTF2A1L) ENSP00000385701.1:n.3442-20539dup
NM_000233.3:c.-70dup (LHCGR) NP_000224.2:n.-70dup
NM_001198593.1:c.3442-20539dup (STON1-GTF2A1L) NP_001185522.1:n.3442-20539dup
NM_001198593.2:c.3442-20539dup (STON1-GTF2A1L) NP_001185522.1:n.3442-20539dup
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