Linked Data
dbSNP Id:
rs1407547606
gnomAD v2:
3-10331574-AAACAGTCTGTTTAGGACTCT-A
gnomAD v4:
3-10289890-AAACAGTCTGTTTAGGACTCT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10289893_10289912del , CM000665.2:g.10289893_10289912del | GRCh38 |
| NC_000003.11:g.10331577_10331596del , CM000665.1:g.10331577_10331596del | GRCh37 |
| NC_000003.10:g.10306577_10306596del | NCBI36 |
| NG_011560.1:g.8038_8057del | |
| NG_033090.1:g.13942_13961del | |
| NG_033090.2:g.13942_13961del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000335542.13:c.109-32_109-13del (GHRL) MANE Select | ENSP00000335074.8:n.109-32_109-13del | |
| ENST00000287656.11:c.109-35_109-16del (GHRL) | ENSP00000287656.7:n.109-35_109-16del | |
| ENST00000335542.12:c.109-32_109-13del (GHRL) | ENSP00000335074.8:n.109-32_109-13del | |
| ENST00000422159.5:c.109-32_109-13del (GHRL) | ENSP00000405464.1:n.109-32_109-13del | |
| ENST00000429122.1:c.109-32_109-13del (GHRL) | ENSP00000414819.1:n.109-32_109-13del | |
| ENST00000430179.5:c.109-35_109-16del (GHRL) | ENSP00000399922.1:n.109-35_109-16del | |
| ENST00000437422.6:c.73-32_73-13del (GHRL) | ENSP00000416768.2:n.73-32_73-13del | |
| ENST00000439975.6:c.72+2932_72+2951del (GHRL) | ENSP00000403725.2:n.72+2932_72+2951del | |
| ENST00000446937.2:c.72+2932_72+2951del (GHRL) | ENSP00000394923.2:n.72+2932_72+2951del | |
| ENST00000449238.6:c.73-35_73-16del (GHRL) | ENSP00000388145.2:n.73-35_73-16del | |
| ENST00000457360.5:c.109-32_109-13del (GHRL) | ENSP00000391406.1:n.109-32_109-13del | |
| ENST00000481287.5:n.286-32_286-13del (GHRL) | ||
| ENST00000491589.5:n.200-32_200-13del (GHRL) | ||
| NM_001134941.2:c.109-35_109-16del (GHRL) | NP_001128413.1:n.109-35_109-16del | |
| NM_001134944.1:c.73-32_73-13del (GHRL) | NP_001128416.1:n.73-32_73-13del | |
| NM_001134945.1:c.73-35_73-16del (GHRL) | NP_001128417.1:n.73-35_73-16del | |
| NM_001134946.1:c.72+2932_72+2951del (GHRL) | NP_001128418.1:n.72+2932_72+2951del | |
| NM_001302821.1:c.109-32_109-13del (GHRL) | NP_001289750.1:n.109-32_109-13del | |
| NM_001302822.1:c.109-32_109-13del (GHRL) | NP_001289751.1:n.109-32_109-13del | |
| NM_001302823.1:c.109-35_109-16del (GHRL) | NP_001289752.1:n.109-35_109-16del | |
| NM_001302824.1:c.109-32_109-13del (GHRL) | NP_001289753.1:n.109-32_109-13del | |
| NM_001302825.1:c.109-32_109-13del (GHRL) | NP_001289754.1:n.109-32_109-13del | |
| NM_016362.4:c.109-32_109-13del (GHRL) | NP_057446.1:n.109-32_109-13del | |
| NR_004431.3:n.383+1791_383+1810del (GHRLOS) | ||
| NR_024144.2:n.466+1791_466+1810del (GHRLOS) | ||
| NR_024145.2:n.555+1791_555+1810del (GHRLOS) | ||
| NR_073566.1:n.566+1787_566+1806del (GHRLOS) | ||
| NR_073567.1:n.554+1791_554+1810del (GHRLOS) | ||
| NR_073568.1:n.409+1791_409+1810del (GHRLOS) | ||
| NR_126505.1:n.106+2932_106+2951del (GHRL) | ||
| XM_017006612.2:c.109-32_109-13del (GHRL) | XP_016862101.1:n.109-32_109-13del | |
| XM_017006613.2:c.109-35_109-16del (GHRL) | XP_016862102.1:n.109-35_109-16del | |
| XM_024453594.1:c.109-32_109-13del (GHRL) | XP_024309362.1:n.109-32_109-13del | |
| NM_001134941.3:c.109-35_109-16del (GHRL) | NP_001128413.1:n.109-35_109-16del | |
| NM_001134944.2:c.73-32_73-13del (GHRL) | NP_001128416.1:n.73-32_73-13del | |
| NM_001134945.2:c.73-35_73-16del (GHRL) | NP_001128417.1:n.73-35_73-16del | |
| NM_001134946.2:c.72+2932_72+2951del (GHRL) | NP_001128418.1:n.72+2932_72+2951del | |
| NM_001302821.2:c.109-32_109-13del (GHRL) | NP_001289750.1:n.109-32_109-13del | |
| NM_001302822.2:c.109-32_109-13del (GHRL) | NP_001289751.1:n.109-32_109-13del | |
| NM_001302823.2:c.109-35_109-16del (GHRL) | NP_001289752.1:n.109-35_109-16del | |
| NM_001302824.2:c.109-32_109-13del (GHRL) | NP_001289753.1:n.109-32_109-13del | |
| NM_001302825.2:c.109-32_109-13del (GHRL) | NP_001289754.1:n.109-32_109-13del | |
| NM_016362.5:c.109-32_109-13del (GHRL) MANE Select | NP_057446.1:n.109-32_109-13del | |
| NR_126505.2:n.106+2932_106+2951del (GHRL) |