Canonical Allele Identifier: CA1653010

Gene: LHCGR STON1-GTF2A1L GTF2A1L

Linked Data

• dbSNP Id: rs759884793
• ExAC: 2:48915315 TGAA / T
• gnomAD v2: 2-48915315-TGAA-T
• gnomAD v3: 2-48688176-TGAA-T
• gnomAD v4: 2-48688176-TGAA-T
• MyVariant Identifiers: chr2:g.48915316_48915318del (hg19) ; chr2:g.48688177_48688179del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.48688181_48688183del , CM000664.2:g.48688181_48688183del	GRCh38
NC_000002.11:g.48915320_48915322del , CM000664.1:g.48915320_48915322del	GRCh37
NC_000002.10:g.48768824_48768826del	NCBI36
NG_008193.1:g.72563_72565del
NG_033050.1:g.163257_163259del
NG_008193.2:g.72563_72565del
NG_033050.2:g.163257_163259del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294954.12:c.1618_1620del (LHCGR) MANE Select	ENSP00000294954.6:p.Phe540del
ENST00000294954.11:c.1618_1620del (LHCGR)	ENSP00000294954.6:p.Phe540del
ENST00000401907.5:c.948-40_948-38del (LHCGR)	ENSP00000385406.1:n.948-40_948-38del
ENST00000402114.6:c.3441+16501_3441+16503del (STON1-GTF2A1L)	ENSP00000385701.1:n.3441+16501_3441+16503del
ENST00000403273.5:c.*362_*364del (LHCGR)	ENSP00000385847.1:n.*362_*364del
ENST00000405626.5:c.1537_1539del (LHCGR)	ENSP00000386033.1:p.Phe513del
ENST00000508440.1:c.276+16501_276+16503del (GTF2A1L)	ENSP00000421474.1:n.276+16501_276+16503del
ENST00000602369.3:c.*220+6045_*220+6047del	ENSP00000473498.1:n.*220+6045_*220+6047del
NM_000233.3:c.1618_1620del (LHCGR)	NP_000224.2:p.Phe540del
NM_001198593.1:c.3441+16501_3441+16503del (STON1-GTF2A1L)	NP_001185522.1:n.3441+16501_3441+16503del
XM_005264309.2:c.661_663del (LHCGR)	XP_005264366.1:p.Phe221del
XM_006712015.2:c.688_690del (LHCGR)	XP_006712078.1:p.Phe230del
XM_011532828.1:c.1543_1545del (LHCGR)	XP_011531130.1:p.Phe515del
XM_011532829.1:c.1357_1359del (LHCGR)	XP_011531131.1:p.Phe453del
XM_011532830.1:c.1276_1278del (LHCGR)	XP_011531132.1:p.Phe426del
XM_011532831.1:c.982_984del (LHCGR)	XP_011531133.1:p.Phe328del
XM_011532832.1:c.688_690del (LHCGR)	XP_011531134.1:p.Phe230del
XM_011532833.1:c.688_690del (LHCGR)	XP_011531135.1:p.Phe230del
XM_011532834.1:c.661_663del (LHCGR)	XP_011531136.1:p.Phe221del
XM_005264309.3:c.661_663del (LHCGR)	XP_005264366.1:p.Phe221del
XM_006712015.3:c.688_690del (LHCGR)	XP_006712078.1:p.Phe230del
XM_011532834.2:c.661_663del (LHCGR)	XP_011531136.1:p.Phe221del
XM_017004089.1:c.1363_1365del (LHCGR)	XP_016859578.1:p.Phe455del
XM_017004090.1:c.982_984del (LHCGR)	XP_016859579.1:p.Phe328del
NM_000233.4:c.1618_1620del (LHCGR) MANE Select	NP_000224.2:p.Phe540del
NM_001198593.2:c.3441+16501_3441+16503del (STON1-GTF2A1L)	NP_001185522.1:n.3441+16501_3441+16503del