Canonical Allele Identifier: CA2505514659

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10289500_10289517del , CM000665.2:g.10289500_10289517del GRCh38
NC_000003.11:g.10331184_10331201del , CM000665.1:g.10331184_10331201del GRCh37
NC_000003.10:g.10306184_10306201del NCBI36
NG_011560.1:g.8431_8448del
NG_033090.1:g.13549_13566del
NG_033090.2:g.13549_13566del

Transcript Alleles

HGVS Amino-acid Change
ENST00000335542.13:c.225+245_225+262del (GHRL) MANE Select ENSP00000335074.8:n.225+245_225+262del
ENST00000287656.11:c.222+245_222+262del (GHRL) ENSP00000287656.7:n.222+245_222+262del
ENST00000335542.12:c.225+245_225+262del (GHRL) ENSP00000335074.8:n.225+245_225+262del
ENST00000422159.5:c.225+245_225+262del (GHRL) ENSP00000405464.1:n.225+245_225+262del
ENST00000429122.1:c.225+245_225+262del (GHRL) ENSP00000414819.1:n.225+245_225+262del
ENST00000430179.5:c.222+245_222+262del (GHRL) ENSP00000399922.1:n.222+245_222+262del
ENST00000437422.6:c.189+245_189+262del (GHRL) ENSP00000416768.2:n.189+245_189+262del
ENST00000439975.6:c.73-2705_73-2688del (GHRL) ENSP00000403725.2:n.73-2705_73-2688del
ENST00000446937.2:c.72+3325_72+3342del (GHRL) ENSP00000394923.2:n.72+3325_72+3342del
ENST00000449238.6:c.186+245_186+262del (GHRL) ENSP00000388145.2:n.186+245_186+262del
ENST00000457360.5:c.225+245_225+262del (GHRL) ENSP00000391406.1:n.225+245_225+262del
ENST00000475759.5:n.46+245_46+262del (GHRL)
ENST00000476283.1:n.46+245_46+262del (GHRL)
ENST00000481287.5:n.402+245_402+262del (GHRL)
ENST00000491589.5:n.316+245_316+262del (GHRL)
NM_001134941.2:c.222+245_222+262del (GHRL) NP_001128413.1:n.222+245_222+262del
NM_001134944.1:c.189+245_189+262del (GHRL) NP_001128416.1:n.189+245_189+262del
NM_001134945.1:c.186+245_186+262del (GHRL) NP_001128417.1:n.186+245_186+262del
NM_001134946.1:c.73-2705_73-2688del (GHRL) NP_001128418.1:n.73-2705_73-2688del
NM_001302821.1:c.225+245_225+262del (GHRL) NP_001289750.1:n.225+245_225+262del
NM_001302822.1:c.225+245_225+262del (GHRL) NP_001289751.1:n.225+245_225+262del
NM_001302823.1:c.222+245_222+262del (GHRL) NP_001289752.1:n.222+245_222+262del
NM_001302824.1:c.225+245_225+262del (GHRL) NP_001289753.1:n.225+245_225+262del
NM_001302825.1:c.225+245_225+262del (GHRL) NP_001289754.1:n.225+245_225+262del
NM_016362.4:c.225+245_225+262del (GHRL) NP_057446.1:n.225+245_225+262del
NR_004431.3:n.383+1398_383+1415del (GHRLOS)
NR_024144.2:n.466+1398_466+1415del (GHRLOS)
NR_024145.2:n.555+1398_555+1415del (GHRLOS)
NR_073566.1:n.566+1394_566+1411del (GHRLOS)
NR_073567.1:n.554+1398_554+1415del (GHRLOS)
NR_073568.1:n.409+1398_409+1415del (GHRLOS)
NR_126505.1:n.106+3325_106+3342del (GHRL)
XM_017006612.2:c.225+245_225+262del (GHRL) XP_016862101.1:n.225+245_225+262del
XM_017006613.2:c.222+245_222+262del (GHRL) XP_016862102.1:n.222+245_222+262del
XM_024453594.1:c.225+245_225+262del (GHRL) XP_024309362.1:n.225+245_225+262del
NM_001134941.3:c.222+245_222+262del (GHRL) NP_001128413.1:n.222+245_222+262del
NM_001134944.2:c.189+245_189+262del (GHRL) NP_001128416.1:n.189+245_189+262del
NM_001134945.2:c.186+245_186+262del (GHRL) NP_001128417.1:n.186+245_186+262del
NM_001134946.2:c.73-2705_73-2688del (GHRL) NP_001128418.1:n.73-2705_73-2688del
NM_001302821.2:c.225+245_225+262del (GHRL) NP_001289750.1:n.225+245_225+262del
NM_001302822.2:c.225+245_225+262del (GHRL) NP_001289751.1:n.225+245_225+262del
NM_001302823.2:c.222+245_222+262del (GHRL) NP_001289752.1:n.222+245_222+262del
NM_001302824.2:c.225+245_225+262del (GHRL) NP_001289753.1:n.225+245_225+262del
NM_001302825.2:c.225+245_225+262del (GHRL) NP_001289754.1:n.225+245_225+262del
NM_016362.5:c.225+245_225+262del (GHRL) MANE Select NP_057446.1:n.225+245_225+262del
NR_126505.2:n.106+3325_106+3342del (GHRL)