Canonical Allele Identifier: CA573470851

Gene: GHRHR

Linked Data

• dbSNP Id: rs1339022083
• gnomAD v2: 7-31018969-GC-G
• gnomAD v3: 7-30979354-GC-G
• gnomAD v4: 7-30979354-GC-G
• MyVariant Identifiers: chr7:g.31018970del (hg19) ; chr7:g.30979355del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30979357del , CM000669.2:g.30979357del	GRCh38
NC_000007.13:g.31018972del , CM000669.1:g.31018972del	GRCh37
NC_000007.12:g.30985497del	NCBI36
NG_021416.1:g.20337del

Transcript Alleles

HGVS	Amino-acid change
ENST00000326139.7:c.*113del MANE Select	ENSP00000320180.2:n.*113del
ENST00000326139.6:c.*113del	ENSP00000320180.2:n.*113del
ENST00000337750.9:c.*601del	ENSP00000338184.4:n.*601del
ENST00000396227.6:c.*601del	ENSP00000379529.2:n.*601del
ENST00000409316.5:c.*228del	ENSP00000386602.1:n.*228del
ENST00000409904.7:c.*113del	ENSP00000387113.3:n.*113del
ENST00000461424.5:n.680+2799del
ENST00000463164.1:n.369del
ENST00000611037.1:c.550+2799del	ENSP00000480159.1:n.550+2799del
NM_000823.3:c.*113del	NP_000814.2:n.*113del
XM_011515263.1:c.*113del	XP_011513565.1:n.*113del
NM_000823.4:c.*113del MANE Select	NP_000814.2:n.*113del