Canonical Allele Identifier: CA2689981363
Gene: GRHPR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.37429880_37429887del , CM000671.2:g.37429880_37429887del GRCh38
NC_000009.11:g.37429877_37429884del , CM000671.1:g.37429877_37429884del GRCh37
NC_000009.10:g.37419877_37419884del NCBI36
NG_008135.1:g.12171_12178del

Transcript Alleles

HGVS Amino-acid Change
ENST00000318158.11:c.598+44_598+51del MANE Select ENSP00000313432.6:n.598+44_598+51del
ENST00000318158.10:c.598+44_598+51del ENSP00000313432.6:n.598+44_598+51del
ENST00000377824.8:n.635+44_635+51del
ENST00000460882.5:n.625+44_625+51del
ENST00000480596.5:n.1299+44_1299+51del
ENST00000482603.1:n.51+44_51+51del
ENST00000491488.5:n.303+44_303+51del
ENST00000494290.1:c.169+44_169+51del ENSP00000432021.1:n.169+44_169+51del
ENST00000497693.1:n.2175_2182del
ENST00000607784.1:c.598+44_598+51del ENSP00000475569.1:n.598+44_598+51del
NM_012203.1:c.598+44_598+51del NP_036335.1:n.598+44_598+51del
XM_005251631.1:c.277+44_277+51del XP_005251688.1:n.277+44_277+51del
XM_011518073.1:c.196+44_196+51del XP_011516375.1:n.196+44_196+51del
XR_929374.1:n.1043+44_1043+51del
XM_017015320.2:c.598+44_598+51del XP_016870809.1:n.598+44_598+51del
XM_017015321.2:c.598+44_598+51del XP_016870810.1:n.598+44_598+51del
XM_017015323.2:c.196+44_196+51del XP_016870812.1:n.196+44_196+51del
XM_024447716.1:c.871+44_871+51del XP_024303484.1:n.871+44_871+51del
XM_024447717.1:c.871+44_871+51del XP_024303485.1:n.871+44_871+51del
XR_002956828.1:n.886+44_886+51del
XR_002956829.1:n.886+44_886+51del
XR_002956830.1:n.657+44_657+51del
XR_002956831.1:n.332+44_332+51del
XR_002956832.1:n.1017+44_1017+51del
NM_012203.2:c.598+44_598+51del MANE Select NP_036335.1:n.598+44_598+51del