Canonical Allele Identifier: CA1248603943

Gene: LHCGR STON1-GTF2A1L GTF2A1L

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.48694194_48694196delinsTTC , CM000664.2:g.48694194_48694196delinsTTC	GRCh38
NC_000002.11:g.48921333_48921335delinsTTC , CM000664.1:g.48921333_48921335delinsTTC	GRCh37
NC_000002.10:g.48774837_48774839delinsTTC	NCBI36
NG_008193.1:g.66546_66548delinsGAA
NG_033050.1:g.169270_169272delinsTTC
NG_008193.2:g.66546_66548delinsGAA
NG_033050.2:g.169270_169272delinsTTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294954.12:c.947+28_947+30delinsGAA (LHCGR) MANE Select	ENSP00000294954.6:n.947+28_947+30delinsGAA
ENST00000294954.11:c.947+28_947+30delinsGAA (LHCGR)	ENSP00000294954.6:n.947+28_947+30delinsGAA
ENST00000401907.5:c.947+28_947+30delinsGAA (LHCGR)	ENSP00000385406.1:n.947+28_947+30delinsGAA
ENST00000402114.6:c.3441+22514_3441+22516delinsTTC (STON1-GTF2A1L)	ENSP00000385701.1:n.3441+22514_3441+22516delinsTTC
ENST00000403273.5:c.947+28_947+30delinsGAA (LHCGR)	ENSP00000385847.1:n.947+28_947+30delinsGAA
ENST00000405626.5:c.866+4419_866+4421delinsGAA (LHCGR)	ENSP00000386033.1:n.866+4419_866+4421delinsGAA
ENST00000508440.1:c.276+22514_276+22516delinsTTC (GTF2A1L)	ENSP00000421474.1:n.276+22514_276+22516delinsTTC
ENST00000602369.3:c.*220+28_*220+30delinsGAA	ENSP00000473498.1:n.*220+28_*220+30delinsGAA
NM_000233.3:c.947+28_947+30delinsGAA (LHCGR)	NP_000224.2:n.947+28_947+30delinsGAA
NM_001198593.1:c.3441+22514_3441+22516delinsTTC (STON1-GTF2A1L)	NP_001185522.1:n.3441+22514_3441+22516delinsTTC
XM_005264309.2:c.-11+45_-11+47delinsGAA (LHCGR)	XP_005264366.1:n.-11+45_-11+47delinsGAA
XM_006712015.2:c.-932_-930delinsGAA (LHCGR)	XP_006712078.1:n.-932_-930delinsGAA
XM_011532828.1:c.872+28_872+30delinsGAA (LHCGR)	XP_011531130.1:n.872+28_872+30delinsGAA
XM_011532829.1:c.686+28_686+30delinsGAA (LHCGR)	XP_011531131.1:n.686+28_686+30delinsGAA
XM_011532830.1:c.606-5347_606-5345delinsGAA (LHCGR)	XP_011531132.1:n.606-5347_606-5345delinsGAA
XM_011532831.1:c.311+28_311+30delinsGAA (LHCGR)	XP_011531133.1:n.311+28_311+30delinsGAA
XM_011532832.1:c.-499_-497delinsGAA (LHCGR)	XP_011531134.1:n.-499_-497delinsGAA
XM_011532833.1:c.-495_-493delinsGAA (LHCGR)	XP_011531135.1:n.-495_-493delinsGAA
XM_011532834.1:c.-301_-299delinsGAA (LHCGR)	XP_011531136.1:n.-301_-299delinsGAA
XM_005264309.3:c.-11+45_-11+47delinsGAA (LHCGR)	XP_005264366.1:n.-11+45_-11+47delinsGAA
XM_006712015.3:c.-932_-930delinsGAA (LHCGR)	XP_006712078.1:n.-932_-930delinsGAA
XM_011532834.2:c.-301_-299delinsGAA (LHCGR)	XP_011531136.1:n.-301_-299delinsGAA
XM_017004089.1:c.692+28_692+30delinsGAA (LHCGR)	XP_016859578.1:n.692+28_692+30delinsGAA
XM_017004090.1:c.311+28_311+30delinsGAA (LHCGR)	XP_016859579.1:n.311+28_311+30delinsGAA
NM_000233.4:c.947+28_947+30delinsGAA (LHCGR) MANE Select	NP_000224.2:n.947+28_947+30delinsGAA
NM_001198593.2:c.3441+22514_3441+22516delinsTTC (STON1-GTF2A1L)	NP_001185522.1:n.3441+22514_3441+22516delinsTTC