Canonical Allele Identifier: CA916530537

Gene: LHCGR STON1-GTF2A1L GTF2A1L

Linked Data

• dbSNP Id: rs1572802043

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.48688121_48688122insACTCTAAAGTT , CM000664.2:g.48688121_48688122insACTCTAAAGTT	GRCh38
NC_000002.11:g.48915260_48915261insACTCTAAAGTT , CM000664.1:g.48915260_48915261insACTCTAAAGTT	GRCh37
NC_000002.10:g.48768764_48768765insACTCTAAAGTT	NCBI36
NG_008193.1:g.72620_72621insAACTTTAGAGT
NG_033050.1:g.163197_163198insACTCTAAAGTT
NG_008193.2:g.72620_72621insAACTTTAGAGT
NG_033050.2:g.163197_163198insACTCTAAAGTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294954.12:c.1675_1676insAACTTTAGAGT (LHCGR) MANE Select	ENSP00000294954.6:p.Met559LysfsTer3
ENST00000294954.11:c.1675_1676insAACTTTAGAGT (LHCGR)	ENSP00000294954.6:p.Met559LysfsTer3
ENST00000401907.5:c.965_966insAACTTTAGAGT (LHCGR)	ENSP00000385406.1:p.Asn322LysfsTer?
ENST00000402114.6:c.3441+16441_3441+16442insACTCTAAAGTT (STON1-GTF2A1L)	ENSP00000385701.1:n.3441+16441_3441+16442insACTCTAAAGTT
ENST00000403273.5:c.*419_*420insAACTTTAGAGT (LHCGR)	ENSP00000385847.1:n.*419_*420insAACTTTAGAGT
ENST00000405626.5:c.1594_1595insAACTTTAGAGT (LHCGR)	ENSP00000386033.1:p.Met532LysfsTer3
ENST00000508440.1:c.276+16441_276+16442insACTCTAAAGTT (GTF2A1L)	ENSP00000421474.1:n.276+16441_276+16442insACTCTAAAGTT
ENST00000602369.3:c.*220+6102_*220+6103insAACTTTAGAGT	ENSP00000473498.1:n.*220+6102_*220+6103insAACTTTAGAGT
NM_000233.3:c.1675_1676insAACTTTAGAGT (LHCGR)	NP_000224.2:p.Met559LysfsTer3
NM_001198593.1:c.3441+16441_3441+16442insACTCTAAAGTT (STON1-GTF2A1L)	NP_001185522.1:n.3441+16441_3441+16442insACTCTAAAGTT
XM_005264309.2:c.718_719insAACTTTAGAGT (LHCGR)	XP_005264366.1:p.Met240LysfsTer3
XM_006712015.2:c.745_746insAACTTTAGAGT (LHCGR)	XP_006712078.1:p.Met249LysfsTer3
XM_011532828.1:c.1600_1601insAACTTTAGAGT (LHCGR)	XP_011531130.1:p.Met534LysfsTer3
XM_011532829.1:c.1414_1415insAACTTTAGAGT (LHCGR)	XP_011531131.1:p.Met472LysfsTer3
XM_011532830.1:c.1333_1334insAACTTTAGAGT (LHCGR)	XP_011531132.1:p.Met445LysfsTer3
XM_011532831.1:c.1039_1040insAACTTTAGAGT (LHCGR)	XP_011531133.1:p.Met347LysfsTer3
XM_011532832.1:c.745_746insAACTTTAGAGT (LHCGR)	XP_011531134.1:p.Met249LysfsTer3
XM_011532833.1:c.745_746insAACTTTAGAGT (LHCGR)	XP_011531135.1:p.Met249LysfsTer3
XM_011532834.1:c.718_719insAACTTTAGAGT (LHCGR)	XP_011531136.1:p.Met240LysfsTer3
XM_005264309.3:c.718_719insAACTTTAGAGT (LHCGR)	XP_005264366.1:p.Met240LysfsTer3
XM_006712015.3:c.745_746insAACTTTAGAGT (LHCGR)	XP_006712078.1:p.Met249LysfsTer3
XM_011532834.2:c.718_719insAACTTTAGAGT (LHCGR)	XP_011531136.1:p.Met240LysfsTer3
XM_017004089.1:c.1420_1421insAACTTTAGAGT (LHCGR)	XP_016859578.1:p.Met474LysfsTer3
XM_017004090.1:c.1039_1040insAACTTTAGAGT (LHCGR)	XP_016859579.1:p.Met347LysfsTer3
NM_000233.4:c.1675_1676insAACTTTAGAGT (LHCGR) MANE Select	NP_000224.2:p.Met559LysfsTer3
NM_001198593.2:c.3441+16441_3441+16442insACTCTAAAGTT (STON1-GTF2A1L)	NP_001185522.1:n.3441+16441_3441+16442insACTCTAAAGTT