Canonical Allele Identifier: CA532706162

Gene: LHCGR STON1-GTF2A1L GTF2A1L

Linked Data

• gnomAD v2: 2-48915090-A-AAT
• gnomAD v4: 2-48687951-A-AAT
• MyVariant Identifiers: chr2:g.48915090_48915091insAT (hg19) ; chr2:g.48687951_48687952insAT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.48687952_48687953dup , CM000664.2:g.48687952_48687953dup	GRCh38
NC_000002.11:g.48915091_48915092dup , CM000664.1:g.48915091_48915092dup	GRCh37
NC_000002.10:g.48768595_48768596dup	NCBI36
NG_008193.1:g.72789_72790dup
NG_033050.1:g.163028_163029dup
NG_008193.2:g.72789_72790dup
NG_033050.2:g.163028_163029dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000294954.12:c.1844_1845dup (LHCGR) MANE Select	ENSP00000294954.6:p.Ser616IlefsTer24
ENST00000294954.11:c.1844_1845dup (LHCGR)	ENSP00000294954.6:p.Ser616IlefsTer24
ENST00000401907.5:c.*156_*157dup (LHCGR)	ENSP00000385406.1:n.*156_*157dup
ENST00000402114.6:c.3441+16272_3441+16273dup (STON1-GTF2A1L)	ENSP00000385701.1:n.3441+16272_3441+16273...
ENST00000403273.5:c.*588_*589dup (LHCGR)	ENSP00000385847.1:n.*588_*589dup
ENST00000405626.5:c.1763_1764dup (LHCGR)	ENSP00000386033.1:p.Ser589IlefsTer24
ENST00000508440.1:c.276+16272_276+16273dup (GTF2A1L)	ENSP00000421474.1:n.276+16272_276+16273du...
ENST00000602369.3:c.*220+6271_*220+6272dup	ENSP00000473498.1:n.*220+6271_*220+6272du...
NM_000233.3:c.1844_1845dup (LHCGR)	NP_000224.2:p.Ser616IlefsTer24
NM_001198593.1:c.3441+16272_3441+16273dup (STON1-GTF2A1L)	NP_001185522.1:n.3441+16272_3441+16273dup...
XM_005264309.2:c.887_888dup (LHCGR)	XP_005264366.1:p.Ser297IlefsTer24
XM_006712015.2:c.914_915dup (LHCGR)	XP_006712078.1:p.Ser306IlefsTer24
XM_011532828.1:c.1769_1770dup (LHCGR)	XP_011531130.1:p.Ser591IlefsTer24
XM_011532829.1:c.1583_1584dup (LHCGR)	XP_011531131.1:p.Ser529IlefsTer24
XM_011532830.1:c.1502_1503dup (LHCGR)	XP_011531132.1:p.Ser502IlefsTer24
XM_011532831.1:c.1208_1209dup (LHCGR)	XP_011531133.1:p.Ser404IlefsTer24
XM_011532832.1:c.914_915dup (LHCGR)	XP_011531134.1:p.Ser306IlefsTer24
XM_011532833.1:c.914_915dup (LHCGR)	XP_011531135.1:p.Ser306IlefsTer24
XM_011532834.1:c.887_888dup (LHCGR)	XP_011531136.1:p.Ser297IlefsTer24
XM_005264309.3:c.887_888dup (LHCGR)	XP_005264366.1:p.Ser297IlefsTer24
XM_006712015.3:c.914_915dup (LHCGR)	XP_006712078.1:p.Ser306IlefsTer24
XM_011532834.2:c.887_888dup (LHCGR)	XP_011531136.1:p.Ser297IlefsTer24
XM_017004089.1:c.1589_1590dup (LHCGR)	XP_016859578.1:p.Ser531IlefsTer24
XM_017004090.1:c.1208_1209dup (LHCGR)	XP_016859579.1:p.Ser404IlefsTer24
NM_000233.4:c.1844_1845dup (LHCGR) MANE Select	NP_000224.2:p.Ser616IlefsTer24
NM_001198593.2:c.3441+16272_3441+16273dup (STON1-GTF2A1L)	NP_001185522.1:n.3441+16272_3441+16273dup...