Canonical Allele Identifier: CA645522020

Gene: LHCGR STON1-GTF2A1L GTF2A1L

Linked Data

• COSMIC: COSM5862604

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.48687761_48687763del , CM000664.2:g.48687761_48687763del	GRCh38
NC_000002.11:g.48914900_48914902del , CM000664.1:g.48914900_48914902del	GRCh37
NC_000002.10:g.48768404_48768406del	NCBI36
NG_008193.1:g.72980_72982del
NG_033050.1:g.162837_162839del
NG_008193.2:g.72980_72982del
NG_033050.2:g.162837_162839del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294954.12:c.2035_2037del (LHCGR) MANE Select	ENSP00000294954.6:p.Lys679del
ENST00000294954.11:c.2035_2037del (LHCGR)	ENSP00000294954.6:p.Lys679del
ENST00000401907.5:c.*347_*349del (LHCGR)	ENSP00000385406.1:n.*347_*349del
ENST00000402114.6:c.3441+16081_3441+16083del (STON1-GTF2A1L)	ENSP00000385701.1:n.3441+16081_3441+16083del
ENST00000403273.5:c.*779_*781del (LHCGR)	ENSP00000385847.1:n.*779_*781del
ENST00000405626.5:c.1954_1956del (LHCGR)	ENSP00000386033.1:p.Lys652del
ENST00000508440.1:c.276+16081_276+16083del (GTF2A1L)	ENSP00000421474.1:n.276+16081_276+16083del
ENST00000602369.3:c.*220+6462_*220+6464del	ENSP00000473498.1:n.*220+6462_*220+6464del
NM_000233.3:c.2035_2037del (LHCGR)	NP_000224.2:p.Lys679del
NM_001198593.1:c.3441+16081_3441+16083del (STON1-GTF2A1L)	NP_001185522.1:n.3441+16081_3441+16083del
XM_005264309.2:c.1078_1080del (LHCGR)	XP_005264366.1:p.Lys360del
XM_006712015.2:c.1105_1107del (LHCGR)	XP_006712078.1:p.Lys369del
XM_011532828.1:c.1960_1962del (LHCGR)	XP_011531130.1:p.Lys654del
XM_011532829.1:c.1774_1776del (LHCGR)	XP_011531131.1:p.Lys592del
XM_011532830.1:c.1693_1695del (LHCGR)	XP_011531132.1:p.Lys565del
XM_011532831.1:c.1399_1401del (LHCGR)	XP_011531133.1:p.Lys467del
XM_011532832.1:c.1105_1107del (LHCGR)	XP_011531134.1:p.Lys369del
XM_011532833.1:c.1105_1107del (LHCGR)	XP_011531135.1:p.Lys369del
XM_011532834.1:c.1078_1080del (LHCGR)	XP_011531136.1:p.Lys360del
XM_005264309.3:c.1078_1080del (LHCGR)	XP_005264366.1:p.Lys360del
XM_006712015.3:c.1105_1107del (LHCGR)	XP_006712078.1:p.Lys369del
XM_011532834.2:c.1078_1080del (LHCGR)	XP_011531136.1:p.Lys360del
XM_017004089.1:c.1780_1782del (LHCGR)	XP_016859578.1:p.Lys594del
XM_017004090.1:c.1399_1401del (LHCGR)	XP_016859579.1:p.Lys467del
NM_000233.4:c.2035_2037del (LHCGR) MANE Select	NP_000224.2:p.Lys679del
NM_001198593.2:c.3441+16081_3441+16083del (STON1-GTF2A1L)	NP_001185522.1:n.3441+16081_3441+16083del