Canonical Allele Identifier: CA532706160

Gene: LHCGR STON1-GTF2A1L GTF2A1L

Linked Data

• dbSNP Id: rs1264782710
• gnomAD v2: 2-48915059-AAT-A
• MyVariant Identifiers: chr2:g.48915060_48915061del (hg19) ; chr2:g.48687921_48687922del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.48687923_48687924del , CM000664.2:g.48687923_48687924del	GRCh38
NC_000002.11:g.48915062_48915063del , CM000664.1:g.48915062_48915063del	GRCh37
NC_000002.10:g.48768566_48768567del	NCBI36
NG_008193.1:g.72820_72821del
NG_033050.1:g.162999_163000del
NG_008193.2:g.72820_72821del
NG_033050.2:g.162999_163000del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294954.12:c.1875_1876del (LHCGR) MANE Select	ENSP00000294954.6:p.Phe626HisfsTer2
ENST00000294954.11:c.1875_1876del (LHCGR)	ENSP00000294954.6:p.Phe626HisfsTer2
ENST00000401907.5:c.*187_*188del (LHCGR)	ENSP00000385406.1:n.*187_*188del
ENST00000402114.6:c.3441+16243_3441+16244del (STON1-GTF2A1L)	ENSP00000385701.1:n.3441+16243_3441+16244del
ENST00000403273.5:c.*619_*620del (LHCGR)	ENSP00000385847.1:n.*619_*620del
ENST00000405626.5:c.1794_1795del (LHCGR)	ENSP00000386033.1:p.Phe599HisfsTer2
ENST00000508440.1:c.276+16243_276+16244del (GTF2A1L)	ENSP00000421474.1:n.276+16243_276+16244del
ENST00000602369.3:c.*220+6302_*220+6303del	ENSP00000473498.1:n.*220+6302_*220+6303del
NM_000233.3:c.1875_1876del (LHCGR)	NP_000224.2:p.Phe626HisfsTer2
NM_001198593.1:c.3441+16243_3441+16244del (STON1-GTF2A1L)	NP_001185522.1:n.3441+16243_3441+16244del
XM_005264309.2:c.918_919del (LHCGR)	XP_005264366.1:p.Phe307HisfsTer2
XM_006712015.2:c.945_946del (LHCGR)	XP_006712078.1:p.Phe316HisfsTer2
XM_011532828.1:c.1800_1801del (LHCGR)	XP_011531130.1:p.Phe601HisfsTer2
XM_011532829.1:c.1614_1615del (LHCGR)	XP_011531131.1:p.Phe539HisfsTer2
XM_011532830.1:c.1533_1534del (LHCGR)	XP_011531132.1:p.Phe512HisfsTer2
XM_011532831.1:c.1239_1240del (LHCGR)	XP_011531133.1:p.Phe414HisfsTer2
XM_011532832.1:c.945_946del (LHCGR)	XP_011531134.1:p.Phe316HisfsTer2
XM_011532833.1:c.945_946del (LHCGR)	XP_011531135.1:p.Phe316HisfsTer2
XM_011532834.1:c.918_919del (LHCGR)	XP_011531136.1:p.Phe307HisfsTer2
XM_005264309.3:c.918_919del (LHCGR)	XP_005264366.1:p.Phe307HisfsTer2
XM_006712015.3:c.945_946del (LHCGR)	XP_006712078.1:p.Phe316HisfsTer2
XM_011532834.2:c.918_919del (LHCGR)	XP_011531136.1:p.Phe307HisfsTer2
XM_017004089.1:c.1620_1621del (LHCGR)	XP_016859578.1:p.Phe541HisfsTer2
XM_017004090.1:c.1239_1240del (LHCGR)	XP_016859579.1:p.Phe414HisfsTer2
NM_000233.4:c.1875_1876del (LHCGR) MANE Select	NP_000224.2:p.Phe626HisfsTer2
NM_001198593.2:c.3441+16243_3441+16244del (STON1-GTF2A1L)	NP_001185522.1:n.3441+16243_3441+16244del