Canonical Allele Identifier: CA70074793

Gene: GHRL GHRLOS

Linked Data

• dbSNP Id: rs559636776
• gnomAD v2: 3-10331243-GTTAC-G
• gnomAD v3: 3-10289559-GTTAC-G
• gnomAD v4: 3-10289559-GTTAC-G
• MyVariant Identifiers: chr3:g.10331244_10331247del (hg19) ; chr3:g.10289560_10289563del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10289562_10289565del , CM000665.2:g.10289562_10289565del	GRCh38
NC_000003.11:g.10331246_10331249del , CM000665.1:g.10331246_10331249del	GRCh37
NC_000003.10:g.10306246_10306249del	NCBI36
NG_011560.1:g.8385_8388del
NG_033090.1:g.13611_13614del
NG_033090.2:g.13611_13614del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000335542.13:c.225+199_225+202del (GHRL) MANE Select	ENSP00000335074.8:n.225+199_225+202del
ENST00000287656.11:c.222+199_222+202del (GHRL)	ENSP00000287656.7:n.222+199_222+202del
ENST00000335542.12:c.225+199_225+202del (GHRL)	ENSP00000335074.8:n.225+199_225+202del
ENST00000422159.5:c.225+199_225+202del (GHRL)	ENSP00000405464.1:n.225+199_225+202del
ENST00000429122.1:c.225+199_225+202del (GHRL)	ENSP00000414819.1:n.225+199_225+202del
ENST00000430179.5:c.222+199_222+202del (GHRL)	ENSP00000399922.1:n.222+199_222+202del
ENST00000437422.6:c.189+199_189+202del (GHRL)	ENSP00000416768.2:n.189+199_189+202del
ENST00000439975.6:c.73-2751_73-2748del (GHRL)	ENSP00000403725.2:n.73-2751_73-2748del
ENST00000446937.2:c.72+3279_72+3282del (GHRL)	ENSP00000394923.2:n.72+3279_72+3282del
ENST00000449238.6:c.186+199_186+202del (GHRL)	ENSP00000388145.2:n.186+199_186+202del
ENST00000457360.5:c.225+199_225+202del (GHRL)	ENSP00000391406.1:n.225+199_225+202del
ENST00000475759.5:n.46+199_46+202del (GHRL)
ENST00000476283.1:n.46+199_46+202del (GHRL)
ENST00000481287.5:n.402+199_402+202del (GHRL)
ENST00000491589.5:n.316+199_316+202del (GHRL)
NM_001134941.2:c.222+199_222+202del (GHRL)	NP_001128413.1:n.222+199_222+202del
NM_001134944.1:c.189+199_189+202del (GHRL)	NP_001128416.1:n.189+199_189+202del
NM_001134945.1:c.186+199_186+202del (GHRL)	NP_001128417.1:n.186+199_186+202del
NM_001134946.1:c.73-2751_73-2748del (GHRL)	NP_001128418.1:n.73-2751_73-2748del
NM_001302821.1:c.225+199_225+202del (GHRL)	NP_001289750.1:n.225+199_225+202del
NM_001302822.1:c.225+199_225+202del (GHRL)	NP_001289751.1:n.225+199_225+202del
NM_001302823.1:c.222+199_222+202del (GHRL)	NP_001289752.1:n.222+199_222+202del
NM_001302824.1:c.225+199_225+202del (GHRL)	NP_001289753.1:n.225+199_225+202del
NM_001302825.1:c.225+199_225+202del (GHRL)	NP_001289754.1:n.225+199_225+202del
NM_016362.4:c.225+199_225+202del (GHRL)	NP_057446.1:n.225+199_225+202del
NR_004431.3:n.383+1460_383+1463del (GHRLOS)
NR_024144.2:n.466+1460_466+1463del (GHRLOS)
NR_024145.2:n.555+1460_555+1463del (GHRLOS)
NR_073566.1:n.566+1456_566+1459del (GHRLOS)
NR_073567.1:n.554+1460_554+1463del (GHRLOS)
NR_073568.1:n.409+1460_409+1463del (GHRLOS)
NR_126505.1:n.106+3279_106+3282del (GHRL)
XM_017006612.2:c.225+199_225+202del (GHRL)	XP_016862101.1:n.225+199_225+202del
XM_017006613.2:c.222+199_222+202del (GHRL)	XP_016862102.1:n.222+199_222+202del
XM_024453594.1:c.225+199_225+202del (GHRL)	XP_024309362.1:n.225+199_225+202del
NM_001134941.3:c.222+199_222+202del (GHRL)	NP_001128413.1:n.222+199_222+202del
NM_001134944.2:c.189+199_189+202del (GHRL)	NP_001128416.1:n.189+199_189+202del
NM_001134945.2:c.186+199_186+202del (GHRL)	NP_001128417.1:n.186+199_186+202del
NM_001134946.2:c.73-2751_73-2748del (GHRL)	NP_001128418.1:n.73-2751_73-2748del
NM_001302821.2:c.225+199_225+202del (GHRL)	NP_001289750.1:n.225+199_225+202del
NM_001302822.2:c.225+199_225+202del (GHRL)	NP_001289751.1:n.225+199_225+202del
NM_001302823.2:c.222+199_222+202del (GHRL)	NP_001289752.1:n.222+199_222+202del
NM_001302824.2:c.225+199_225+202del (GHRL)	NP_001289753.1:n.225+199_225+202del
NM_001302825.2:c.225+199_225+202del (GHRL)	NP_001289754.1:n.225+199_225+202del
NM_016362.5:c.225+199_225+202del (GHRL) MANE Select	NP_057446.1:n.225+199_225+202del
NR_126505.2:n.106+3279_106+3282del (GHRL)