Canonical Allele Identifier: CA2658995089

Gene: LHCGR STON1-GTF2A1L

Linked Data

• gnomAD v4: 2-48755607-G-GGCAGCGGCGGCTGCAGCAGCA

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.48755613_48755633dup , CM000664.2:g.48755613_48755633dup	GRCh38
NC_000002.11:g.48982752_48982772dup , CM000664.1:g.48982752_48982772dup	GRCh37
NC_000002.10:g.48836256_48836276dup	NCBI36
NG_008193.1:g.5114_5134dup
NG_033050.1:g.230689_230709dup
NG_008193.2:g.5114_5134dup
NG_033050.2:g.230689_230709dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294954.12:c.44_64dup (LHCGR) MANE Select	ENSP00000294954.6:p.Leu21_Pro22insLeuLeuLeuGlnProProLeu
ENST00000294954.11:c.44_64dup (LHCGR)	ENSP00000294954.6:p.Leu21_Pro22insLeuLeuLeuGlnProProLeu
ENST00000401907.5:c.44_64dup (LHCGR)	ENSP00000385406.1:p.Leu21_Pro22insLeuLeuLeuGlnProProLeu
ENST00000402114.6:c.3442-20667_3442-20647dup (STON1-GTF2A1L)	ENSP00000385701.1:n.3442-20667_3442-20647dup
ENST00000403273.5:c.44_64dup (LHCGR)	ENSP00000385847.1:p.Leu21_Pro22insLeuLeuLeuGlnProProLeu
ENST00000405626.5:c.44_64dup (LHCGR)	ENSP00000386033.1:p.Leu21_Pro22insLeuLeuLeuGlnProProLeu
ENST00000602369.3:c.44_64dup	ENSP00000473498.1:p.Leu21_Pro22insLeuLeuLeuGlnProProLeu
NM_000233.3:c.44_64dup (LHCGR)	NP_000224.2:p.Leu21_Pro22insLeuLeuLeuGlnProProLeu
NM_001198593.1:c.3442-20667_3442-20647dup (STON1-GTF2A1L)	NP_001185522.1:n.3442-20667_3442-20647dup
XM_011532828.1:c.44_64dup (LHCGR)	XP_011531130.1:p.Leu21_Pro22insLeuLeuLeuGlnProProLeu
XM_011532829.1:c.44_64dup (LHCGR)	XP_011531131.1:p.Leu21_Pro22insLeuLeuLeuGlnProProLeu
XM_011532830.1:c.44_64dup (LHCGR)	XP_011531132.1:p.Leu21_Pro22insLeuLeuLeuGlnProProLeu
NM_000233.4:c.44_64dup (LHCGR) MANE Select	NP_000224.2:p.Leu21_Pro22insLeuLeuLeuGlnProProLeu
NM_001198593.2:c.3442-20667_3442-20647dup (STON1-GTF2A1L)	NP_001185522.1:n.3442-20667_3442-20647dup