Canonical Allele Identifier: CA2664412987

Gene: GHRL GHRLOS

Linked Data

• gnomAD v4: 3-10289833-CTCGG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10289834_10289837del , CM000665.2:g.10289834_10289837del	GRCh38
NC_000003.11:g.10331518_10331521del , CM000665.1:g.10331518_10331521del	GRCh37
NC_000003.10:g.10306518_10306521del	NCBI36
NG_011560.1:g.8111_8114del
NG_033090.1:g.13883_13886del
NG_033090.2:g.13883_13886del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000335542.13:c.150_153del (GHRL) MANE Select	ENSP00000335074.8:p.Arg51LeufsTer2
ENST00000287656.11:c.147_150del (GHRL)	ENSP00000287656.7:p.Arg50LeufsTer2
ENST00000335542.12:c.150_153del (GHRL)	ENSP00000335074.8:p.Arg51LeufsTer2
ENST00000422159.5:c.150_153del (GHRL)	ENSP00000405464.1:p.Arg51LeufsTer2
ENST00000429122.1:c.150_153del (GHRL)	ENSP00000414819.1:p.Arg51LeufsTer2
ENST00000430179.5:c.147_150del (GHRL)	ENSP00000399922.1:p.Arg50LeufsTer2
ENST00000437422.6:c.114_117del (GHRL)	ENSP00000416768.2:p.Arg39LeufsTer2
ENST00000439975.6:c.72+3005_72+3008del (GHRL)	ENSP00000403725.2:n.72+3005_72+3008del
ENST00000446937.2:c.72+3005_72+3008del (GHRL)	ENSP00000394923.2:n.72+3005_72+3008del
ENST00000449238.6:c.111_114del (GHRL)	ENSP00000388145.2:p.Arg38LeufsTer2
ENST00000457360.5:c.150_153del (GHRL)	ENSP00000391406.1:p.Arg51LeufsTer2
ENST00000481287.5:n.327_330del (GHRL)
ENST00000491589.5:n.241_244del (GHRL)
NM_001134941.2:c.147_150del (GHRL)	NP_001128413.1:p.Arg50LeufsTer2
NM_001134944.1:c.114_117del (GHRL)	NP_001128416.1:p.Arg39LeufsTer2
NM_001134945.1:c.111_114del (GHRL)	NP_001128417.1:p.Arg38LeufsTer2
NM_001134946.1:c.72+3005_72+3008del (GHRL)	NP_001128418.1:n.72+3005_72+3008del
NM_001302821.1:c.150_153del (GHRL)	NP_001289750.1:p.Arg51LeufsTer2
NM_001302822.1:c.150_153del (GHRL)	NP_001289751.1:p.Arg51LeufsTer2
NM_001302823.1:c.147_150del (GHRL)	NP_001289752.1:p.Arg50LeufsTer2
NM_001302824.1:c.150_153del (GHRL)	NP_001289753.1:p.Arg51LeufsTer2
NM_001302825.1:c.150_153del (GHRL)	NP_001289754.1:p.Arg51LeufsTer2
NM_016362.4:c.150_153del (GHRL)	NP_057446.1:p.Arg51LeufsTer2
NR_004431.3:n.383+1732_383+1735del (GHRLOS)
NR_024144.2:n.466+1732_466+1735del (GHRLOS)
NR_024145.2:n.555+1732_555+1735del (GHRLOS)
NR_073566.1:n.566+1728_566+1731del (GHRLOS)
NR_073567.1:n.554+1732_554+1735del (GHRLOS)
NR_073568.1:n.409+1732_409+1735del (GHRLOS)
NR_126505.1:n.106+3005_106+3008del (GHRL)
XM_017006612.2:c.150_153del (GHRL)	XP_016862101.1:p.Arg51LeufsTer2
XM_017006613.2:c.147_150del (GHRL)	XP_016862102.1:p.Arg50LeufsTer2
XM_024453594.1:c.150_153del (GHRL)	XP_024309362.1:p.Arg51LeufsTer2
NM_001134941.3:c.147_150del (GHRL)	NP_001128413.1:p.Arg50LeufsTer2
NM_001134944.2:c.114_117del (GHRL)	NP_001128416.1:p.Arg39LeufsTer2
NM_001134945.2:c.111_114del (GHRL)	NP_001128417.1:p.Arg38LeufsTer2
NM_001134946.2:c.72+3005_72+3008del (GHRL)	NP_001128418.1:n.72+3005_72+3008del
NM_001302821.2:c.150_153del (GHRL)	NP_001289750.1:p.Arg51LeufsTer2
NM_001302822.2:c.150_153del (GHRL)	NP_001289751.1:p.Arg51LeufsTer2
NM_001302823.2:c.147_150del (GHRL)	NP_001289752.1:p.Arg50LeufsTer2
NM_001302824.2:c.150_153del (GHRL)	NP_001289753.1:p.Arg51LeufsTer2
NM_001302825.2:c.150_153del (GHRL)	NP_001289754.1:p.Arg51LeufsTer2
NM_016362.5:c.150_153del (GHRL) MANE Select	NP_057446.1:p.Arg51LeufsTer2
NR_126505.2:n.106+3005_106+3008del (GHRL)