Canonical Allele Identifier: CA532706168

Gene: LHCGR STON1-GTF2A1L GTF2A1L

Linked Data

• dbSNP Id: rs1254990275
• gnomAD v2: 2-48915776-C-CT
• gnomAD v4: 2-48688637-C-CT
• MyVariant Identifiers: chr2:g.48915776_48915777insT (hg19) ; chr2:g.48688637_48688638insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.48688639dup , CM000664.2:g.48688639dup	GRCh38
NC_000002.11:g.48915778dup , CM000664.1:g.48915778dup	GRCh37
NC_000002.10:g.48769282dup	NCBI36
NG_008193.1:g.72104dup
NG_033050.1:g.163715dup
NG_008193.2:g.72104dup
NG_033050.2:g.163715dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000294954.12:c.1159dup (LHCGR) MANE Select	ENSP00000294954.6:p.Ser387LysfsTer?
ENST00000294954.11:c.1159dup (LHCGR)	ENSP00000294954.6:p.Ser387LysfsTer?
ENST00000401907.5:c.948-499dup (LHCGR)	ENSP00000385406.1:n.948-499dup
ENST00000402114.6:c.3441+16959dup (STON1-GTF2A1L)	ENSP00000385701.1:n.3441+16959dup
ENST00000403273.5:c.948-55dup (LHCGR)	ENSP00000385847.1:n.948-55dup
ENST00000405626.5:c.1078dup (LHCGR)	ENSP00000386033.1:p.Ser360LysfsTer?
ENST00000508440.1:c.276+16959dup (GTF2A1L)	ENSP00000421474.1:n.276+16959dup
ENST00000602369.3:c.*220+5586dup	ENSP00000473498.1:n.*220+5586dup
NM_000233.3:c.1159dup (LHCGR)	NP_000224.2:p.Ser387LysfsTer?
NM_001198593.1:c.3441+16959dup (STON1-GTF2A1L)	NP_001185522.1:n.3441+16959dup
XM_005264309.2:c.202dup (LHCGR)	XP_005264366.1:p.Ser68LysfsTer?
XM_006712015.2:c.229dup (LHCGR)	XP_006712078.1:p.Ser77LysfsTer?
XM_011532828.1:c.1084dup (LHCGR)	XP_011531130.1:p.Ser362LysfsTer?
XM_011532829.1:c.898dup (LHCGR)	XP_011531131.1:p.Ser300LysfsTer?
XM_011532830.1:c.817dup (LHCGR)	XP_011531132.1:p.Ser273LysfsTer?
XM_011532831.1:c.523dup (LHCGR)	XP_011531133.1:p.Ser175LysfsTer?
XM_011532832.1:c.229dup (LHCGR)	XP_011531134.1:p.Ser77LysfsTer?
XM_011532833.1:c.229dup (LHCGR)	XP_011531135.1:p.Ser77LysfsTer?
XM_011532834.1:c.202dup (LHCGR)	XP_011531136.1:p.Ser68LysfsTer?
XM_005264309.3:c.202dup (LHCGR)	XP_005264366.1:p.Ser68LysfsTer?
XM_006712015.3:c.229dup (LHCGR)	XP_006712078.1:p.Ser77LysfsTer?
XM_011532834.2:c.202dup (LHCGR)	XP_011531136.1:p.Ser68LysfsTer?
XM_017004089.1:c.904dup (LHCGR)	XP_016859578.1:p.Ser302LysfsTer?
XM_017004090.1:c.523dup (LHCGR)	XP_016859579.1:p.Ser175LysfsTer?
NM_000233.4:c.1159dup (LHCGR) MANE Select	NP_000224.2:p.Ser387LysfsTer?
NM_001198593.2:c.3441+16959dup (STON1-GTF2A1L)	NP_001185522.1:n.3441+16959dup