Linked Data
dbSNP Id:
rs1258369687
gnomAD v2:
3-10331569-GGGGGAAAC-G
gnomAD v4:
3-10289885-GGGGGAAAC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10289886_10289893del , CM000665.2:g.10289886_10289893del | GRCh38 |
| NC_000003.11:g.10331570_10331577del , CM000665.1:g.10331570_10331577del | GRCh37 |
| NC_000003.10:g.10306570_10306577del | NCBI36 |
| NG_011560.1:g.8055_8062del | |
| NG_033090.1:g.13935_13942del | |
| NG_033090.2:g.13935_13942del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000335542.13:c.109-15_109-8del (GHRL) MANE Select | ENSP00000335074.8:n.109-15_109-8del | |
| ENST00000287656.11:c.109-18_109-11del (GHRL) | ENSP00000287656.7:n.109-18_109-11del | |
| ENST00000335542.12:c.109-15_109-8del (GHRL) | ENSP00000335074.8:n.109-15_109-8del | |
| ENST00000422159.5:c.109-15_109-8del (GHRL) | ENSP00000405464.1:n.109-15_109-8del | |
| ENST00000429122.1:c.109-15_109-8del (GHRL) | ENSP00000414819.1:n.109-15_109-8del | |
| ENST00000430179.5:c.109-18_109-11del (GHRL) | ENSP00000399922.1:n.109-18_109-11del | |
| ENST00000437422.6:c.73-15_73-8del (GHRL) | ENSP00000416768.2:n.73-15_73-8del | |
| ENST00000439975.6:c.72+2949_72+2956del (GHRL) | ENSP00000403725.2:n.72+2949_72+2956del | |
| ENST00000446937.2:c.72+2949_72+2956del (GHRL) | ENSP00000394923.2:n.72+2949_72+2956del | |
| ENST00000449238.6:c.73-18_73-11del (GHRL) | ENSP00000388145.2:n.73-18_73-11del | |
| ENST00000457360.5:c.109-15_109-8del (GHRL) | ENSP00000391406.1:n.109-15_109-8del | |
| ENST00000481287.5:n.286-15_286-8del (GHRL) | ||
| ENST00000491589.5:n.200-15_200-8del (GHRL) | ||
| NM_001134941.2:c.109-18_109-11del (GHRL) | NP_001128413.1:n.109-18_109-11del | |
| NM_001134944.1:c.73-15_73-8del (GHRL) | NP_001128416.1:n.73-15_73-8del | |
| NM_001134945.1:c.73-18_73-11del (GHRL) | NP_001128417.1:n.73-18_73-11del | |
| NM_001134946.1:c.72+2949_72+2956del (GHRL) | NP_001128418.1:n.72+2949_72+2956del | |
| NM_001302821.1:c.109-15_109-8del (GHRL) | NP_001289750.1:n.109-15_109-8del | |
| NM_001302822.1:c.109-15_109-8del (GHRL) | NP_001289751.1:n.109-15_109-8del | |
| NM_001302823.1:c.109-18_109-11del (GHRL) | NP_001289752.1:n.109-18_109-11del | |
| NM_001302824.1:c.109-15_109-8del (GHRL) | NP_001289753.1:n.109-15_109-8del | |
| NM_001302825.1:c.109-15_109-8del (GHRL) | NP_001289754.1:n.109-15_109-8del | |
| NM_016362.4:c.109-15_109-8del (GHRL) | NP_057446.1:n.109-15_109-8del | |
| NR_004431.3:n.383+1784_383+1791del (GHRLOS) | ||
| NR_024144.2:n.466+1784_466+1791del (GHRLOS) | ||
| NR_024145.2:n.555+1784_555+1791del (GHRLOS) | ||
| NR_073566.1:n.566+1780_566+1787del (GHRLOS) | ||
| NR_073567.1:n.554+1784_554+1791del (GHRLOS) | ||
| NR_073568.1:n.409+1784_409+1791del (GHRLOS) | ||
| NR_126505.1:n.106+2949_106+2956del (GHRL) | ||
| XM_017006612.2:c.109-15_109-8del (GHRL) | XP_016862101.1:n.109-15_109-8del | |
| XM_017006613.2:c.109-18_109-11del (GHRL) | XP_016862102.1:n.109-18_109-11del | |
| XM_024453594.1:c.109-15_109-8del (GHRL) | XP_024309362.1:n.109-15_109-8del | |
| NM_001134941.3:c.109-18_109-11del (GHRL) | NP_001128413.1:n.109-18_109-11del | |
| NM_001134944.2:c.73-15_73-8del (GHRL) | NP_001128416.1:n.73-15_73-8del | |
| NM_001134945.2:c.73-18_73-11del (GHRL) | NP_001128417.1:n.73-18_73-11del | |
| NM_001134946.2:c.72+2949_72+2956del (GHRL) | NP_001128418.1:n.72+2949_72+2956del | |
| NM_001302821.2:c.109-15_109-8del (GHRL) | NP_001289750.1:n.109-15_109-8del | |
| NM_001302822.2:c.109-15_109-8del (GHRL) | NP_001289751.1:n.109-15_109-8del | |
| NM_001302823.2:c.109-18_109-11del (GHRL) | NP_001289752.1:n.109-18_109-11del | |
| NM_001302824.2:c.109-15_109-8del (GHRL) | NP_001289753.1:n.109-15_109-8del | |
| NM_001302825.2:c.109-15_109-8del (GHRL) | NP_001289754.1:n.109-15_109-8del | |
| NM_016362.5:c.109-15_109-8del (GHRL) MANE Select | NP_057446.1:n.109-15_109-8del | |
| NR_126505.2:n.106+2949_106+2956del (GHRL) |