Canonical Allele Identifier: CA1653491
Gene: LHCGR HGNC NCBI
STON1-GTF2A1L HGNC NCBI

Linked Data

ClinVar Variation Id: 336471
ClinVar RCV Id: RCV000283585 RCV000319880 RCV000303287 RCV000378063 RCV002270219 RCV002057704
dbSNP Id: rs71245621
ExAC: 2:48982755 G / GGCTGCA
gnomAD v2: 2-48982755-G-GGCTGCA
gnomAD v3: 2-48755616-G-GGCTGCA
gnomAD v4: 2-48755616-G-GGCTGCA
COSMIC: COSM5445962 COSM5826177
MyVariant Identifiers: chr2:g.48982756_48982761dupGCTGCA (hg19) chr2:g.48982758_48982759insGCAGCT (hg19) chr2:g.48982755_48982756insGCTGCA (hg19) chr2:g.48755617_48755622dupGCTGCA (hg38) chr2:g.48755619_48755620insGCAGCT (hg38) chr2:g.48755616_48755617insGCTGCA (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.48755619_48755624dup , CM000664.2:g.48755619_48755624dup GRCh38
NC_000002.11:g.48982758_48982763dup , CM000664.1:g.48982758_48982763dup GRCh37
NC_000002.10:g.48836262_48836267dup NCBI36
NG_008193.1:g.5120_5125dup
NG_033050.1:g.230695_230700dup
NG_008193.2:g.5120_5125dup
NG_033050.2:g.230695_230700dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000294954.12:c.50_55dup (LHCGR) MANE Select ENSP00000294954.6:p.Gln18_Pro19insLeuGln
ENST00000294954.11:c.50_55dup (LHCGR) ENSP00000294954.6:p.Gln18_Pro19insLeuGln
ENST00000401907.5:c.50_55dup (LHCGR) ENSP00000385406.1:p.Gln18_Pro19insLeuGln
ENST00000402114.6:c.3442-20661_3442-20656dup (STON1-GTF2A1L) ENSP00000385701.1:n.3442-20661_3442-20656dup
ENST00000403273.5:c.50_55dup (LHCGR) ENSP00000385847.1:p.Gln18_Pro19insLeuGln
ENST00000405626.5:c.50_55dup (LHCGR) ENSP00000386033.1:p.Gln18_Pro19insLeuGln
ENST00000602369.3:c.50_55dup ENSP00000473498.1:p.Gln18_Pro19insLeuGln
NM_000233.3:c.50_55dup (LHCGR) NP_000224.2:p.Gln18_Pro19insLeuGln
NM_001198593.1:c.3442-20661_3442-20656dup (STON1-GTF2A1L) NP_001185522.1:n.3442-20661_3442-20656dup
XM_011532828.1:c.50_55dup (LHCGR) XP_011531130.1:p.Gln18_Pro19insLeuGln
XM_011532829.1:c.50_55dup (LHCGR) XP_011531131.1:p.Gln18_Pro19insLeuGln
XM_011532830.1:c.50_55dup (LHCGR) XP_011531132.1:p.Gln18_Pro19insLeuGln
NM_000233.4:c.50_55dup (LHCGR) MANE Select NP_000224.2:p.Gln18_Pro19insLeuGln
NM_001198593.2:c.3442-20661_3442-20656dup (STON1-GTF2A1L) NP_001185522.1:n.3442-20661_3442-20656dup
Search 100 bp 5'
Search 100 bp 3'