Canonical Allele Identifier: CA2840006227
Gene: GHRHR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.30969070dup , CM000669.2:g.30969070dup GRCh38
NC_000007.13:g.31008685dup , CM000669.1:g.31008685dup GRCh37
NC_000007.12:g.30975210dup NCBI36
NG_021416.1:g.10050dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000326139.7:c.168dup MANE Select ENSP00000320180.2:p.Ala57CysfsTer?
ENST00000326139.6:c.168dup ENSP00000320180.2:p.Ala57CysfsTer?
NM_000823.3:c.168dup NP_000814.2:p.Ala57CysfsTer?
NM_000823.4:c.168dup MANE Select NP_000814.2:p.Ala57CysfsTer?