Canonical Allele Identifier: CA2580067106

Gene: LHCGR STON1-GTF2A1L GTF2A1L

Linked Data

• ClinVar Variation Id: 14399
• ClinVar RCV Id: RCV000015479 ; RCV000015480
• dbSNP Id: rs2104352652
• gnomAD v4: 2-48687967-AAGAACC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.48687970_48687975del , CM000664.2:g.48687970_48687975del	GRCh38
NC_000002.11:g.48915109_48915114del , CM000664.1:g.48915109_48915114del	GRCh37
NC_000002.10:g.48768613_48768618del	NCBI36
NG_008193.1:g.72769_72774del
NG_033050.1:g.163046_163051del
NG_008193.2:g.72769_72774del
NG_033050.2:g.163046_163051del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294954.12:c.1824_1829del (LHCGR) MANE Select	ENSP00000294954.6:p.Val609_Leu610del
ENST00000294954.11:c.1824_1829del (LHCGR)	ENSP00000294954.6:p.Val609_Leu610del
ENST00000401907.5:c.*136_*141del (LHCGR)	ENSP00000385406.1:n.*136_*141del
ENST00000402114.6:c.3441+16290_3441+16295del (STON1-GTF2A1L)	ENSP00000385701.1:n.3441+16290_3441+16295del
ENST00000403273.5:c.*568_*573del (LHCGR)	ENSP00000385847.1:n.*568_*573del
ENST00000405626.5:c.1743_1748del (LHCGR)	ENSP00000386033.1:p.Val582_Leu583del
ENST00000508440.1:c.276+16290_276+16295del (GTF2A1L)	ENSP00000421474.1:n.276+16290_276+16295del
ENST00000602369.3:c.*220+6251_*220+6256del	ENSP00000473498.1:n.*220+6251_*220+6256del
NM_000233.3:c.1824_1829del (LHCGR)	NP_000224.2:p.Val609_Leu610del
NM_001198593.1:c.3441+16290_3441+16295del (STON1-GTF2A1L)	NP_001185522.1:n.3441+16290_3441+16295del
XM_005264309.2:c.867_872del (LHCGR)	XP_005264366.1:p.Val290_Leu291del
XM_006712015.2:c.894_899del (LHCGR)	XP_006712078.1:p.Val299_Leu300del
XM_011532828.1:c.1749_1754del (LHCGR)	XP_011531130.1:p.Val584_Leu585del
XM_011532829.1:c.1563_1568del (LHCGR)	XP_011531131.1:p.Val522_Leu523del
XM_011532830.1:c.1482_1487del (LHCGR)	XP_011531132.1:p.Val495_Leu496del
XM_011532831.1:c.1188_1193del (LHCGR)	XP_011531133.1:p.Val397_Leu398del
XM_011532832.1:c.894_899del (LHCGR)	XP_011531134.1:p.Val299_Leu300del
XM_011532833.1:c.894_899del (LHCGR)	XP_011531135.1:p.Val299_Leu300del
XM_011532834.1:c.867_872del (LHCGR)	XP_011531136.1:p.Val290_Leu291del
XM_005264309.3:c.867_872del (LHCGR)	XP_005264366.1:p.Val290_Leu291del
XM_006712015.3:c.894_899del (LHCGR)	XP_006712078.1:p.Val299_Leu300del
XM_011532834.2:c.867_872del (LHCGR)	XP_011531136.1:p.Val290_Leu291del
XM_017004089.1:c.1569_1574del (LHCGR)	XP_016859578.1:p.Val524_Leu525del
XM_017004090.1:c.1188_1193del (LHCGR)	XP_016859579.1:p.Val397_Leu398del
NM_000233.4:c.1824_1829del (LHCGR) MANE Select	NP_000224.2:p.Val609_Leu610del
NM_001198593.2:c.3441+16290_3441+16295del (STON1-GTF2A1L)	NP_001185522.1:n.3441+16290_3441+16295del