Canonical Allele Identifier: CA1248601075

Gene: LHCGR STON1-GTF2A1L GTF2A1L

Linked Data

• dbSNP Id: rs1680011035

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.48688312_48688313insT , CM000664.2:g.48688312_48688313insT	GRCh38
NC_000002.11:g.48915451_48915452insT , CM000664.1:g.48915451_48915452insT	GRCh37
NC_000002.10:g.48768955_48768956insT	NCBI36
NG_008193.1:g.72429_72430insA
NG_033050.1:g.163388_163389insT
NG_008193.2:g.72429_72430insA
NG_033050.2:g.163388_163389insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294954.12:c.1484_1485insA (LHCGR) MANE Select	ENSP00000294954.6:p.Leu496SerfsTer?
ENST00000294954.11:c.1484_1485insA (LHCGR)	ENSP00000294954.6:p.Leu496SerfsTer?
ENST00000401907.5:c.948-174_948-173insA (LHCGR)	ENSP00000385406.1:n.948-174_948-173insA
ENST00000402114.6:c.3441+16632_3441+16633insT (STON1-GTF2A1L)	ENSP00000385701.1:n.3441+16632_3441+16633insT
ENST00000403273.5:c.*228_*229insA (LHCGR)	ENSP00000385847.1:n.*228_*229insA
ENST00000405626.5:c.1403_1404insA (LHCGR)	ENSP00000386033.1:p.Leu469SerfsTer?
ENST00000508440.1:c.276+16632_276+16633insT (GTF2A1L)	ENSP00000421474.1:n.276+16632_276+16633insT
ENST00000602369.3:c.*220+5911_*220+5912insA	ENSP00000473498.1:n.*220+5911_*220+5912insA
NM_000233.3:c.1484_1485insA (LHCGR)	NP_000224.2:p.Leu496SerfsTer?
NM_001198593.1:c.3441+16632_3441+16633insT (STON1-GTF2A1L)	NP_001185522.1:n.3441+16632_3441+16633insT
XM_005264309.2:c.527_528insA (LHCGR)	XP_005264366.1:p.Leu177SerfsTer?
XM_006712015.2:c.554_555insA (LHCGR)	XP_006712078.1:p.Leu186SerfsTer?
XM_011532828.1:c.1409_1410insA (LHCGR)	XP_011531130.1:p.Leu471SerfsTer?
XM_011532829.1:c.1223_1224insA (LHCGR)	XP_011531131.1:p.Leu409SerfsTer?
XM_011532830.1:c.1142_1143insA (LHCGR)	XP_011531132.1:p.Leu382SerfsTer?
XM_011532831.1:c.848_849insA (LHCGR)	XP_011531133.1:p.Leu284SerfsTer?
XM_011532832.1:c.554_555insA (LHCGR)	XP_011531134.1:p.Leu186SerfsTer?
XM_011532833.1:c.554_555insA (LHCGR)	XP_011531135.1:p.Leu186SerfsTer?
XM_011532834.1:c.527_528insA (LHCGR)	XP_011531136.1:p.Leu177SerfsTer?
XM_005264309.3:c.527_528insA (LHCGR)	XP_005264366.1:p.Leu177SerfsTer?
XM_006712015.3:c.554_555insA (LHCGR)	XP_006712078.1:p.Leu186SerfsTer?
XM_011532834.2:c.527_528insA (LHCGR)	XP_011531136.1:p.Leu177SerfsTer?
XM_017004089.1:c.1229_1230insA (LHCGR)	XP_016859578.1:p.Leu411SerfsTer?
XM_017004090.1:c.848_849insA (LHCGR)	XP_016859579.1:p.Leu284SerfsTer?
NM_000233.4:c.1484_1485insA (LHCGR) MANE Select	NP_000224.2:p.Leu496SerfsTer?
NM_001198593.2:c.3441+16632_3441+16633insT (STON1-GTF2A1L)	NP_001185522.1:n.3441+16632_3441+16633insT