Canonical Allele Identifier: CA2513016346

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10289583_10289584del , CM000665.2:g.10289583_10289584del GRCh38
NC_000003.11:g.10331267_10331268del , CM000665.1:g.10331267_10331268del GRCh37
NC_000003.10:g.10306267_10306268del NCBI36
NG_011560.1:g.8367_8368del
NG_033090.1:g.13632_13633del
NG_033090.2:g.13632_13633del

Transcript Alleles

HGVS Amino-acid change
ENST00000335542.13:c.225+181_225+182del (GHRL) MANE Select ENSP00000335074.8:n.225+181_225+182del
ENST00000287656.11:c.222+181_222+182del (GHRL) ENSP00000287656.7:n.222+181_222+182del
ENST00000335542.12:c.225+181_225+182del (GHRL) ENSP00000335074.8:n.225+181_225+182del
ENST00000422159.5:c.225+181_225+182del (GHRL) ENSP00000405464.1:n.225+181_225+182del
ENST00000429122.1:c.225+181_225+182del (GHRL) ENSP00000414819.1:n.225+181_225+182del
ENST00000430179.5:c.222+181_222+182del (GHRL) ENSP00000399922.1:n.222+181_222+182del
ENST00000437422.6:c.189+181_189+182del (GHRL) ENSP00000416768.2:n.189+181_189+182del
ENST00000439975.6:c.73-2769_73-2768del (GHRL) ENSP00000403725.2:n.73-2769_73-2768del
ENST00000446937.2:c.72+3261_72+3262del (GHRL) ENSP00000394923.2:n.72+3261_72+3262del
ENST00000449238.6:c.186+181_186+182del (GHRL) ENSP00000388145.2:n.186+181_186+182del
ENST00000457360.5:c.225+181_225+182del (GHRL) ENSP00000391406.1:n.225+181_225+182del
ENST00000475759.5:n.46+181_46+182del (GHRL)
ENST00000476283.1:n.46+181_46+182del (GHRL)
ENST00000481287.5:n.402+181_402+182del (GHRL)
ENST00000491589.5:n.316+181_316+182del (GHRL)
NM_001134941.2:c.222+181_222+182del (GHRL) NP_001128413.1:n.222+181_222+182del
NM_001134944.1:c.189+181_189+182del (GHRL) NP_001128416.1:n.189+181_189+182del
NM_001134945.1:c.186+181_186+182del (GHRL) NP_001128417.1:n.186+181_186+182del
NM_001134946.1:c.73-2769_73-2768del (GHRL) NP_001128418.1:n.73-2769_73-2768del
NM_001302821.1:c.225+181_225+182del (GHRL) NP_001289750.1:n.225+181_225+182del
NM_001302822.1:c.225+181_225+182del (GHRL) NP_001289751.1:n.225+181_225+182del
NM_001302823.1:c.222+181_222+182del (GHRL) NP_001289752.1:n.222+181_222+182del
NM_001302824.1:c.225+181_225+182del (GHRL) NP_001289753.1:n.225+181_225+182del
NM_001302825.1:c.225+181_225+182del (GHRL) NP_001289754.1:n.225+181_225+182del
NM_016362.4:c.225+181_225+182del (GHRL) NP_057446.1:n.225+181_225+182del
NR_004431.3:n.383+1481_383+1482del (GHRLOS)
NR_024144.2:n.466+1481_466+1482del (GHRLOS)
NR_024145.2:n.555+1481_555+1482del (GHRLOS)
NR_073566.1:n.566+1477_566+1478del (GHRLOS)
NR_073567.1:n.554+1481_554+1482del (GHRLOS)
NR_073568.1:n.409+1481_409+1482del (GHRLOS)
NR_126505.1:n.106+3261_106+3262del (GHRL)
XM_017006612.2:c.225+181_225+182del (GHRL) XP_016862101.1:n.225+181_225+182del
XM_017006613.2:c.222+181_222+182del (GHRL) XP_016862102.1:n.222+181_222+182del
XM_024453594.1:c.225+181_225+182del (GHRL) XP_024309362.1:n.225+181_225+182del
NM_001134941.3:c.222+181_222+182del (GHRL) NP_001128413.1:n.222+181_222+182del
NM_001134944.2:c.189+181_189+182del (GHRL) NP_001128416.1:n.189+181_189+182del
NM_001134945.2:c.186+181_186+182del (GHRL) NP_001128417.1:n.186+181_186+182del
NM_001134946.2:c.73-2769_73-2768del (GHRL) NP_001128418.1:n.73-2769_73-2768del
NM_001302821.2:c.225+181_225+182del (GHRL) NP_001289750.1:n.225+181_225+182del
NM_001302822.2:c.225+181_225+182del (GHRL) NP_001289751.1:n.225+181_225+182del
NM_001302823.2:c.222+181_222+182del (GHRL) NP_001289752.1:n.222+181_222+182del
NM_001302824.2:c.225+181_225+182del (GHRL) NP_001289753.1:n.225+181_225+182del
NM_001302825.2:c.225+181_225+182del (GHRL) NP_001289754.1:n.225+181_225+182del
NM_016362.5:c.225+181_225+182del (GHRL) MANE Select NP_057446.1:n.225+181_225+182del
NR_126505.2:n.106+3261_106+3262del (GHRL)