Canonical Allele Identifier: CA2682272078

Gene: GHRHR

Linked Data

• gnomAD v4: 7-30979444-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30979445del , CM000669.2:g.30979445del	GRCh38
NC_000007.13:g.31019060del , CM000669.1:g.31019060del	GRCh37
NC_000007.12:g.30985585del	NCBI36
NG_021416.1:g.20425del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326139.7:c.*201del MANE Select	ENSP00000320180.2:n.*201del
ENST00000326139.6:c.*201del	ENSP00000320180.2:n.*201del
ENST00000337750.9:c.*689del	ENSP00000338184.4:n.*689del
ENST00000396227.6:c.*689del	ENSP00000379529.2:n.*689del
ENST00000409316.5:c.*316del	ENSP00000386602.1:n.*316del
ENST00000409904.7:c.*201del	ENSP00000387113.3:n.*201del
ENST00000461424.5:n.680+2887del
ENST00000463164.1:n.457del
ENST00000611037.1:c.550+2887del	ENSP00000480159.1:n.550+2887del
NM_000823.3:c.*201del	NP_000814.2:n.*201del
XM_011515263.1:c.*201del	XP_011513565.1:n.*201del
NM_000823.4:c.*201del MANE Select	NP_000814.2:n.*201del