Canonical Allele Identifier: CA913157690
Gene: GRHPR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.37429732_37429733del , CM000671.2:g.37429732_37429733del GRCh38
NC_000009.11:g.37429729_37429730del , CM000671.1:g.37429729_37429730del GRCh37
NC_000009.10:g.37419729_37419730del NCBI36
NG_008135.1:g.12023_12024del

Transcript Alleles

HGVS Amino-acid Change
ENST00000318158.11:c.494_495del MANE Select ENSP00000313432.6:p.Gly165AlafsTer25
ENST00000318158.10:c.494_495del ENSP00000313432.6:p.Gly165AlafsTer25
ENST00000377824.8:n.531_532del
ENST00000460882.5:n.521_522del
ENST00000480596.5:n.1195_1196del
ENST00000491488.5:n.199_200del
ENST00000494290.1:c.65_66del ENSP00000432021.1:p.Gly22AlafsTer25
ENST00000497693.1:n.2027_2028del
ENST00000607784.1:c.494_495del ENSP00000475569.1:p.Gly165AlafsTer25
NM_012203.1:c.494_495del NP_036335.1:p.Gly165AlafsTer25
XM_005251631.1:c.173_174del XP_005251688.1:p.Gly58AlafsTer25
XM_011518073.1:c.92_93del XP_011516375.1:p.Gly31AlafsTer25
XR_929374.1:n.939_940del
XM_017015320.2:c.494_495del XP_016870809.1:p.Gly165AlafsTer25
XM_017015321.2:c.494_495del XP_016870810.1:p.Gly165AlafsTer25
XM_017015323.2:c.92_93del XP_016870812.1:p.Gly31AlafsTer25
XM_024447716.1:c.767_768del XP_024303484.1:p.Gly256AlafsTer25
XM_024447717.1:c.767_768del XP_024303485.1:p.Gly256AlafsTer25
XR_002956828.1:n.782_783del
XR_002956829.1:n.782_783del
XR_002956830.1:n.553_554del
XR_002956831.1:n.228_229del
XR_002956832.1:n.913_914del
NM_012203.2:c.494_495del MANE Select NP_036335.1:p.Gly165AlafsTer25