Canonical Allele Identifier: CA2576963768

Gene: LHCGR STON1-GTF2A1L

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.48755642_48755643insGGCTG , CM000664.2:g.48755642_48755643insGGCTG	GRCh38
NC_000002.11:g.48982781_48982782insGGCTG , CM000664.1:g.48982781_48982782insGGCTG	GRCh37
NC_000002.10:g.48836285_48836286insGGCTG	NCBI36
NG_008193.1:g.5099_5100insCAGCC
NG_033050.1:g.230718_230719insGGCTG
NG_008193.2:g.5099_5100insCAGCC
NG_033050.2:g.230718_230719insGGCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294954.12:c.29_30insCAGCC (LHCGR) MANE Select	ENSP00000294954.6:p.Leu11SerfsTer3
ENST00000294954.11:c.29_30insCAGCC (LHCGR)	ENSP00000294954.6:p.Leu11SerfsTer3
ENST00000401907.5:c.29_30insCAGCC (LHCGR)	ENSP00000385406.1:p.Leu11SerfsTer3
ENST00000402114.6:c.3442-20638_3442-20637insGGCTG (STON1-GTF2A1L)	ENSP00000385701.1:n.3442-20638_3442-20637insGGCTG
ENST00000403273.5:c.29_30insCAGCC (LHCGR)	ENSP00000385847.1:p.Leu11SerfsTer3
ENST00000405626.5:c.29_30insCAGCC (LHCGR)	ENSP00000386033.1:p.Leu11SerfsTer3
ENST00000602369.3:c.29_30insCAGCC	ENSP00000473498.1:p.Leu11SerfsTer3
NM_000233.3:c.29_30insCAGCC (LHCGR)	NP_000224.2:p.Leu11SerfsTer3
NM_001198593.1:c.3442-20638_3442-20637insGGCTG (STON1-GTF2A1L)	NP_001185522.1:n.3442-20638_3442-20637insGGCTG
XM_011532828.1:c.29_30insCAGCC (LHCGR)	XP_011531130.1:p.Leu11SerfsTer3
XM_011532829.1:c.29_30insCAGCC (LHCGR)	XP_011531131.1:p.Leu11SerfsTer3
XM_011532830.1:c.29_30insCAGCC (LHCGR)	XP_011531132.1:p.Leu11SerfsTer3
NM_000233.4:c.29_30insCAGCC (LHCGR) MANE Select	NP_000224.2:p.Leu11SerfsTer3
NM_001198593.2:c.3442-20638_3442-20637insGGCTG (STON1-GTF2A1L)	NP_001185522.1:n.3442-20638_3442-20637insGGCTG