Canonical Allele Identifier: CA2658995113

Gene: LHCGR STON1-GTF2A1L

Linked Data

• gnomAD v4: 2-48755633-C-CAGA

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.48755635_48755636insAAG , CM000664.2:g.48755635_48755636insAAG	GRCh38
NC_000002.11:g.48982774_48982775insAAG , CM000664.1:g.48982774_48982775insAAG	GRCh37
NC_000002.10:g.48836278_48836279insAAG	NCBI36
NG_008193.1:g.5108_5109insTCT
NG_033050.1:g.230711_230712insAAG
NG_008193.2:g.5108_5109insTCT
NG_033050.2:g.230711_230712insAAG

Transcript Alleles

HGVS	Amino-acid change
ENST00000294954.12:c.38_39insTCT (LHCGR) MANE Select	ENSP00000294954.6:p.Leu13_Leu14insLeu
ENST00000294954.11:c.38_39insTCT (LHCGR)	ENSP00000294954.6:p.Leu13_Leu14insLeu
ENST00000401907.5:c.38_39insTCT (LHCGR)	ENSP00000385406.1:p.Leu13_Leu14insLeu
ENST00000402114.6:c.3442-20645_3442-20644insAAG (STON1-GTF2A1L)	ENSP00000385701.1:n.3442-20645_3442-20644insAAG
ENST00000403273.5:c.38_39insTCT (LHCGR)	ENSP00000385847.1:p.Leu13_Leu14insLeu
ENST00000405626.5:c.38_39insTCT (LHCGR)	ENSP00000386033.1:p.Leu13_Leu14insLeu
ENST00000602369.3:c.38_39insTCT	ENSP00000473498.1:p.Leu13_Leu14insLeu
NM_000233.3:c.38_39insTCT (LHCGR)	NP_000224.2:p.Leu13_Leu14insLeu
NM_001198593.1:c.3442-20645_3442-20644insAAG (STON1-GTF2A1L)	NP_001185522.1:n.3442-20645_3442-20644insAAG
XM_011532828.1:c.38_39insTCT (LHCGR)	XP_011531130.1:p.Leu13_Leu14insLeu
XM_011532829.1:c.38_39insTCT (LHCGR)	XP_011531131.1:p.Leu13_Leu14insLeu
XM_011532830.1:c.38_39insTCT (LHCGR)	XP_011531132.1:p.Leu13_Leu14insLeu
NM_000233.4:c.38_39insTCT (LHCGR) MANE Select	NP_000224.2:p.Leu13_Leu14insLeu
NM_001198593.2:c.3442-20645_3442-20644insAAG (STON1-GTF2A1L)	NP_001185522.1:n.3442-20645_3442-20644insAAG