Canonical Allele Identifier: CA1248601026

Gene: LHCGR STON1-GTF2A1L GTF2A1L

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.48688191_48688192delinsCA , CM000664.2:g.48688191_48688192delinsCA	GRCh38
NC_000002.11:g.48915330_48915331delinsCA , CM000664.1:g.48915330_48915331delinsCA	GRCh37
NC_000002.10:g.48768834_48768835delinsCA	NCBI36
NG_008193.1:g.72550_72551delinsTG
NG_033050.1:g.163267_163268delinsCA
NG_008193.2:g.72550_72551delinsTG
NG_033050.2:g.163267_163268delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294954.12:c.1605_1606delinsTG (LHCGR) MANE Select	ENSP00000294954.6:p.Asn535=
ENST00000294954.11:c.1605_1606delinsTG (LHCGR)	ENSP00000294954.6:p.Asn535=
ENST00000401907.5:c.948-53_948-52delinsTG (LHCGR)	ENSP00000385406.1:n.948-53_948-52delinsTG
ENST00000402114.6:c.3441+16511_3441+16512delinsCA (STON1-GTF2A1L)	ENSP00000385701.1:n.3441+16511_3441+16512delinsCA
ENST00000403273.5:c.*349_*350delinsTG (LHCGR)	ENSP00000385847.1:n.*349_*350delinsTG
ENST00000405626.5:c.1524_1525delinsTG (LHCGR)	ENSP00000386033.1:p.Asn508=
ENST00000508440.1:c.276+16511_276+16512delinsCA (GTF2A1L)	ENSP00000421474.1:n.276+16511_276+16512delinsCA
ENST00000602369.3:c.*220+6032_*220+6033delinsTG	ENSP00000473498.1:n.*220+6032_*220+6033delinsTG
NM_000233.3:c.1605_1606delinsTG (LHCGR)	NP_000224.2:p.Asn535=
NM_001198593.1:c.3441+16511_3441+16512delinsCA (STON1-GTF2A1L)	NP_001185522.1:n.3441+16511_3441+16512delinsCA
XM_005264309.2:c.648_649delinsTG (LHCGR)	XP_005264366.1:p.Asn216=
XM_006712015.2:c.675_676delinsTG (LHCGR)	XP_006712078.1:p.Asn225=
XM_011532828.1:c.1530_1531delinsTG (LHCGR)	XP_011531130.1:p.Asn510=
XM_011532829.1:c.1344_1345delinsTG (LHCGR)	XP_011531131.1:p.Asn448=
XM_011532830.1:c.1263_1264delinsTG (LHCGR)	XP_011531132.1:p.Asn421=
XM_011532831.1:c.969_970delinsTG (LHCGR)	XP_011531133.1:p.Asn323=
XM_011532832.1:c.675_676delinsTG (LHCGR)	XP_011531134.1:p.Asn225=
XM_011532833.1:c.675_676delinsTG (LHCGR)	XP_011531135.1:p.Asn225=
XM_011532834.1:c.648_649delinsTG (LHCGR)	XP_011531136.1:p.Asn216=
XM_005264309.3:c.648_649delinsTG (LHCGR)	XP_005264366.1:p.Asn216=
XM_006712015.3:c.675_676delinsTG (LHCGR)	XP_006712078.1:p.Asn225=
XM_011532834.2:c.648_649delinsTG (LHCGR)	XP_011531136.1:p.Asn216=
XM_017004089.1:c.1350_1351delinsTG (LHCGR)	XP_016859578.1:p.Asn450=
XM_017004090.1:c.969_970delinsTG (LHCGR)	XP_016859579.1:p.Asn323=
NM_000233.4:c.1605_1606delinsTG (LHCGR) MANE Select	NP_000224.2:p.Asn535=
NM_001198593.2:c.3441+16511_3441+16512delinsCA (STON1-GTF2A1L)	NP_001185522.1:n.3441+16511_3441+16512delinsCA