Canonical Allele Identifier: CA896316263

Gene: GHRL GHRLOS

Linked Data

• dbSNP Id: rs1368578134
• gnomAD v3: 3-10289562-ACTT-A
• gnomAD v4: 3-10289562-ACTT-A
• MyVariant Identifiers: chr3:g.10331247_10331249del (hg19) ; chr3:g.10289563_10289565del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10289568_10289570del , CM000665.2:g.10289568_10289570del	GRCh38
NC_000003.11:g.10331252_10331254del , CM000665.1:g.10331252_10331254del	GRCh37
NC_000003.10:g.10306252_10306254del	NCBI36
NG_011560.1:g.8383_8385del
NG_033090.1:g.13617_13619del
NG_033090.2:g.13617_13619del

Transcript Alleles

HGVS	Amino-acid change
ENST00000335542.13:c.225+197_225+199del (GHRL) MANE Select	ENSP00000335074.8:n.225+197_225+199del
ENST00000287656.11:c.222+197_222+199del (GHRL)	ENSP00000287656.7:n.222+197_222+199del
ENST00000335542.12:c.225+197_225+199del (GHRL)	ENSP00000335074.8:n.225+197_225+199del
ENST00000422159.5:c.225+197_225+199del (GHRL)	ENSP00000405464.1:n.225+197_225+199del
ENST00000429122.1:c.225+197_225+199del (GHRL)	ENSP00000414819.1:n.225+197_225+199del
ENST00000430179.5:c.222+197_222+199del (GHRL)	ENSP00000399922.1:n.222+197_222+199del
ENST00000437422.6:c.189+197_189+199del (GHRL)	ENSP00000416768.2:n.189+197_189+199del
ENST00000439975.6:c.73-2753_73-2751del (GHRL)	ENSP00000403725.2:n.73-2753_73-2751del
ENST00000446937.2:c.72+3277_72+3279del (GHRL)	ENSP00000394923.2:n.72+3277_72+3279del
ENST00000449238.6:c.186+197_186+199del (GHRL)	ENSP00000388145.2:n.186+197_186+199del
ENST00000457360.5:c.225+197_225+199del (GHRL)	ENSP00000391406.1:n.225+197_225+199del
ENST00000475759.5:n.46+197_46+199del (GHRL)
ENST00000476283.1:n.46+197_46+199del (GHRL)
ENST00000481287.5:n.402+197_402+199del (GHRL)
ENST00000491589.5:n.316+197_316+199del (GHRL)
NM_001134941.2:c.222+197_222+199del (GHRL)	NP_001128413.1:n.222+197_222+199del
NM_001134944.1:c.189+197_189+199del (GHRL)	NP_001128416.1:n.189+197_189+199del
NM_001134945.1:c.186+197_186+199del (GHRL)	NP_001128417.1:n.186+197_186+199del
NM_001134946.1:c.73-2753_73-2751del (GHRL)	NP_001128418.1:n.73-2753_73-2751del
NM_001302821.1:c.225+197_225+199del (GHRL)	NP_001289750.1:n.225+197_225+199del
NM_001302822.1:c.225+197_225+199del (GHRL)	NP_001289751.1:n.225+197_225+199del
NM_001302823.1:c.222+197_222+199del (GHRL)	NP_001289752.1:n.222+197_222+199del
NM_001302824.1:c.225+197_225+199del (GHRL)	NP_001289753.1:n.225+197_225+199del
NM_001302825.1:c.225+197_225+199del (GHRL)	NP_001289754.1:n.225+197_225+199del
NM_016362.4:c.225+197_225+199del (GHRL)	NP_057446.1:n.225+197_225+199del
NR_004431.3:n.383+1466_383+1468del (GHRLOS)
NR_024144.2:n.466+1466_466+1468del (GHRLOS)
NR_024145.2:n.555+1466_555+1468del (GHRLOS)
NR_073566.1:n.566+1462_566+1464del (GHRLOS)
NR_073567.1:n.554+1466_554+1468del (GHRLOS)
NR_073568.1:n.409+1466_409+1468del (GHRLOS)
NR_126505.1:n.106+3277_106+3279del (GHRL)
XM_017006612.2:c.225+197_225+199del (GHRL)	XP_016862101.1:n.225+197_225+199del
XM_017006613.2:c.222+197_222+199del (GHRL)	XP_016862102.1:n.222+197_222+199del
XM_024453594.1:c.225+197_225+199del (GHRL)	XP_024309362.1:n.225+197_225+199del
NM_001134941.3:c.222+197_222+199del (GHRL)	NP_001128413.1:n.222+197_222+199del
NM_001134944.2:c.189+197_189+199del (GHRL)	NP_001128416.1:n.189+197_189+199del
NM_001134945.2:c.186+197_186+199del (GHRL)	NP_001128417.1:n.186+197_186+199del
NM_001134946.2:c.73-2753_73-2751del (GHRL)	NP_001128418.1:n.73-2753_73-2751del
NM_001302821.2:c.225+197_225+199del (GHRL)	NP_001289750.1:n.225+197_225+199del
NM_001302822.2:c.225+197_225+199del (GHRL)	NP_001289751.1:n.225+197_225+199del
NM_001302823.2:c.222+197_222+199del (GHRL)	NP_001289752.1:n.222+197_222+199del
NM_001302824.2:c.225+197_225+199del (GHRL)	NP_001289753.1:n.225+197_225+199del
NM_001302825.2:c.225+197_225+199del (GHRL)	NP_001289754.1:n.225+197_225+199del
NM_016362.5:c.225+197_225+199del (GHRL) MANE Select	NP_057446.1:n.225+197_225+199del
NR_126505.2:n.106+3277_106+3279del (GHRL)