Canonical Allele Identifier: CA1846865798
Community Standard Title: NM_012203.2(GRHPR):c.271del (p.Asp91MetfsTer17)
Gene: GRHPR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.37425978del , CM000671.2:g.37425978del GRCh38
NC_000009.11:g.37425975del , CM000671.1:g.37425975del GRCh37
NC_000009.10:g.37415975del NCBI36
NG_008135.1:g.8269del

Transcript Alleles

HGVS Amino-acid Change
NM_012203.2:c.271del MANE Select NP_036335.1:p.Asp91MetfsTer17
ENST00000318158.11:c.271del MANE Select ENSP00000313432.6:p.Asp91MetfsTer17
NM_012203.1:c.271del NP_036335.1:p.Asp91MetfsTer17
ENST00000318158.10:c.271del ENSP00000313432.6:p.Asp91MetfsTer17
ENST00000377824.8:n.308del
ENST00000460882.5:n.298del
ENST00000487399.5:n.280del
ENST00000491488.5:n.110-2506del
ENST00000493368.5:n.328del
ENST00000607784.1:c.271del ENSP00000475569.1:p.Asp91MetfsTer17
XM_005251631.1:c.84-2506del XP_005251688.1:n.84-2506del
XM_011518073.1:c.-492del XP_011516375.1:n.-492del
XM_017015320.2:c.271del XP_016870809.1:p.Asp91MetfsTer17
XM_017015321.2:c.271del XP_016870810.1:p.Asp91MetfsTer17
XM_017015323.2:c.-492del XP_016870812.1:n.-492del
XM_024447716.1:c.544del XP_024303484.1:p.Asp182MetfsTer17
XM_024447717.1:c.544del XP_024303485.1:p.Asp182MetfsTer17
XR_002956828.1:n.559del
XR_002956829.1:n.559del
XR_002956830.1:n.330del
XR_002956831.1:n.139-2506del
XR_002956832.1:n.330del
XR_929374.1:n.356del