Canonical Allele Identifier: CA2682271998
Gene: GHRHR HGNC NCBI

Linked Data

gnomAD v4: 7-30979360-GGCAGGT-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.30979365_30979370del , CM000669.2:g.30979365_30979370del GRCh38
NC_000007.13:g.31018980_31018985del , CM000669.1:g.31018980_31018985del GRCh37
NC_000007.12:g.30985505_30985510del NCBI36
NG_021416.1:g.20345_20350del

Transcript Alleles

HGVS Amino-acid Change
ENST00000326139.7:c.*121_*126del MANE Select ENSP00000320180.2:n.*121_*126del
ENST00000326139.6:c.*121_*126del ENSP00000320180.2:n.*121_*126del
ENST00000337750.9:c.*609_*614del ENSP00000338184.4:n.*609_*614del
ENST00000396227.6:c.*609_*614del ENSP00000379529.2:n.*609_*614del
ENST00000409316.5:c.*236_*241del ENSP00000386602.1:n.*236_*241del
ENST00000409904.7:c.*121_*126del ENSP00000387113.3:n.*121_*126del
ENST00000461424.5:n.680+2807_680+2812del
ENST00000463164.1:n.377_382del
ENST00000611037.1:c.550+2807_550+2812del ENSP00000480159.1:n.550+2807_550+2812del
NM_000823.3:c.*121_*126del NP_000814.2:n.*121_*126del
XM_011515263.1:c.*121_*126del XP_011513565.1:n.*121_*126del
NM_000823.4:c.*121_*126del MANE Select NP_000814.2:n.*121_*126del
Search 100 bp 5'
Search 100 bp 3'