Canonical Allele Identifier: CA532706161

Gene: LHCGR STON1-GTF2A1L GTF2A1L

Linked Data

• dbSNP Id: rs1195086202
• gnomAD v2: 2-48915065-G-GTT
• MyVariant Identifiers: chr2:g.48915065_48915066insTT (hg19) ; chr2:g.48687926_48687927insTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.48687926_48687927insTT , CM000664.2:g.48687926_48687927insTT	GRCh38
NC_000002.11:g.48915065_48915066insTT , CM000664.1:g.48915065_48915066insTT	GRCh37
NC_000002.10:g.48768569_48768570insTT	NCBI36
NG_008193.1:g.72815_72816insAA
NG_033050.1:g.163002_163003insTT
NG_008193.2:g.72815_72816insAA
NG_033050.2:g.163002_163003insTT

Transcript Alleles

HGVS	Amino-acid change
ENST00000294954.12:c.1870_1871insAA (LHCGR) MANE Select	ENSP00000294954.6:p.Ala624GlufsTer16
ENST00000294954.11:c.1870_1871insAA (LHCGR)	ENSP00000294954.6:p.Ala624GlufsTer16
ENST00000401907.5:c.*182_*183insAA (LHCGR)	ENSP00000385406.1:n.*182_*183insAA
ENST00000402114.6:c.3441+16246_3441+16247insTT (STON1-GTF2A1L)	ENSP00000385701.1:n.3441+16246_3441+16247...
ENST00000403273.5:c.*614_*615insAA (LHCGR)	ENSP00000385847.1:n.*614_*615insAA
ENST00000405626.5:c.1789_1790insAA (LHCGR)	ENSP00000386033.1:p.Ala597GlufsTer16
ENST00000508440.1:c.276+16246_276+16247insTT (GTF2A1L)	ENSP00000421474.1:n.276+16246_276+16247in...
ENST00000602369.3:c.*220+6297_*220+6298insAA	ENSP00000473498.1:n.*220+6297_*220+6298in...
NM_000233.3:c.1870_1871insAA (LHCGR)	NP_000224.2:p.Ala624GlufsTer16
NM_001198593.1:c.3441+16246_3441+16247insTT (STON1-GTF2A1L)	NP_001185522.1:n.3441+16246_3441+16247ins...
XM_005264309.2:c.913_914insAA (LHCGR)	XP_005264366.1:p.Ala305GlufsTer16
XM_006712015.2:c.940_941insAA (LHCGR)	XP_006712078.1:p.Ala314GlufsTer16
XM_011532828.1:c.1795_1796insAA (LHCGR)	XP_011531130.1:p.Ala599GlufsTer16
XM_011532829.1:c.1609_1610insAA (LHCGR)	XP_011531131.1:p.Ala537GlufsTer16
XM_011532830.1:c.1528_1529insAA (LHCGR)	XP_011531132.1:p.Ala510GlufsTer16
XM_011532831.1:c.1234_1235insAA (LHCGR)	XP_011531133.1:p.Ala412GlufsTer16
XM_011532832.1:c.940_941insAA (LHCGR)	XP_011531134.1:p.Ala314GlufsTer16
XM_011532833.1:c.940_941insAA (LHCGR)	XP_011531135.1:p.Ala314GlufsTer16
XM_011532834.1:c.913_914insAA (LHCGR)	XP_011531136.1:p.Ala305GlufsTer16
XM_005264309.3:c.913_914insAA (LHCGR)	XP_005264366.1:p.Ala305GlufsTer16
XM_006712015.3:c.940_941insAA (LHCGR)	XP_006712078.1:p.Ala314GlufsTer16
XM_011532834.2:c.913_914insAA (LHCGR)	XP_011531136.1:p.Ala305GlufsTer16
XM_017004089.1:c.1615_1616insAA (LHCGR)	XP_016859578.1:p.Ala539GlufsTer16
XM_017004090.1:c.1234_1235insAA (LHCGR)	XP_016859579.1:p.Ala412GlufsTer16
NM_000233.4:c.1870_1871insAA (LHCGR) MANE Select	NP_000224.2:p.Ala624GlufsTer16
NM_001198593.2:c.3441+16246_3441+16247insTT (STON1-GTF2A1L)	NP_001185522.1:n.3441+16246_3441+16247ins...